Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

zu Verbundenen Objekten

Standort: Deutsche Nationalbibliothek Frankfurt am Main

Umfang: 1 Online-Ressource.

Sprache: Englisch

Erschienen in: Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects ; volume:143 ; number:3 ; day:7 ; month:3 ; year:2024 ; pages:263-277 ; date:3.2024
Human genetics ; 143, Heft 3 (7.3.2024), 263-277, 3.2024

Urheber: Oxman, Elias
Li, Huili
Wang, Hong-Yan
Zohn, Irene E.

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1007/s00439-024-02647-4

URN: urn:nbn:de:101:1-2407090937474.011432967077

Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Letzte Aktualisierung: 14.08.2025, 10:59 MESZ

Datenpartner

Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.

Original beim Datenpartner anzeigen

Beteiligte

Oxman, Elias
Li, Huili
Wang, Hong-Yan
Zohn, Irene E.
SpringerLink (Online service)

Ähnliche Objekte (12)

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Informationen zur Registrierung von Kultur- und Wissenseinrichtungen finden Sie hier.

Felder mit * müssen ausgefüllt werden.

Benutzername*

Bitte geben Sie Ihren Benutzernamen ein

E-Mail*

Bitte geben Sie Ihre E-Mail ein

Bitte füllen Sie dieses Feld nicht aus

Vorname

Nachname

Passwort*

Bitte geben Sie Ihr Passwort ein

Passwort bestätigen*

Bitte geben Sie das gleiche Passwort ein

Ich habe die Nutzungsbedingungen und die Datenschutzerklärung zur Erhebung persönlicher Daten gelesen und stimme ihnen zu. *

Dieses Feld ist ein Pflichtfeld.

Ich möchte den Newsletter der Deutschen Digitalen Bibliothek abonnieren. Siehe Informationen zum Newsletter-Abonnement.

Benutzerkonto angelegt

Ihr „Meine DDB“-Konto wurde erfolgreich angelegt. Bevor Sie sich in Ihrem Konto anmelden können, müssen Sie auf den Bestätigungslink in der Nachricht klicken, die wir gerade an die von Ihnen angegebene E-Mail-Adresse geschickt haben

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

Angaben zum Objekt

Verweise und Beziehungen

Beteiligte, Orts- und Zeitangaben

Weitere Informationen

Datenpartner

Beteiligte

Ähnliche Objekte (12)

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Prenatal Diagnosis of Neural Tube Defects

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

Making sense of missense variants in TTN-related congenital myopathies

Verbundene Objekte

Passwort zurücksetzen