Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2105
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia ; volume:19 ; number:1 ; day:23 ; month:1 ; year:2018 ; pages:1-10 ; date:12.2018
BMC bioinformatics ; 19, Heft 1 (23.1.2018), 1-10, 12.2018
- Klassifikation
-
Biowissenschaften, Biologie
- Urheber
-
Sivley, R. Michael
- Beteiligte Personen und Organisationen
-
Sheehan, Jonathan H.
Kropski, Jonathan A.
Cogan, Joy
Blackwell, Timothy S.
Phillips, John A.
Bush, William S.
Meiler, Jens
Capra, John A.
SpringerLink (Online service)
- DOI
-
10.1186/s12859-018-2010-z
- URN
-
urn:nbn:de:1111-201803225382
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:50 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Sivley, R. Michael
- Sheehan, Jonathan H.
- Kropski, Jonathan A.
- Cogan, Joy
- Blackwell, Timothy S.
- Phillips, John A.
- Bush, William S.
- Meiler, Jens
- Capra, John A.
- SpringerLink (Online service)
Ähnliche Objekte (12)
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
In silico comparative characterization of pharmacogenomic missense variants
Pathogenicity Prediction of GABA A Receptor Missense Variants
A framework for exhaustively mapping functional missense variants
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil
Making sense of missense variants in TTN-related congenital myopathies
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
In silico comparative characterization of pharmacogenomic missense variants
Pathogenicity Prediction of GABA A Receptor Missense Variants
A framework for exhaustively mapping functional missense variants
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil
Making sense of missense variants in TTN-related congenital myopathies
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
In silico comparative characterization of pharmacogenomic missense variants
Pathogenicity Prediction of GABA A Receptor Missense Variants
A framework for exhaustively mapping functional missense variants
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil