Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Bibliographic citation: In: American Journal of Medical Genetics Part A. 179(12),S. 2447-2453. ISSN: 1552-4825

Event: Veröffentlichung

(where): Hoboken, NJ

(who): Wiley-Liss

(when): 2023

Event: Veröffentlichung

(where): Leipzig

(who): Universitätsbibliothek Leipzig

(when): 2023

Creator: Courage, Carolina
Jackson, Christopher B.
Owczarek-Lipska, Marta
Jamsheer, Aleksander
Sowinska-Seidler, Anna
Piotrowicz, Małgorzata
Jakubowski, Lucjusz
Dallèves, Fanny
Riesch, Erik
Neidhardt, John
Lemke, Johannes R.

URN: urn:nbn:de:bsz:15-qucosa2-861162

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:51 AM CEST

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Associated

Courage, Carolina
Jackson, Christopher B.
Owczarek-Lipska, Marta
Jamsheer, Aleksander
Sowinska-Seidler, Anna
Piotrowicz, Małgorzata
Jakubowski, Lucjusz
Dallèves, Fanny
Riesch, Erik
Neidhardt, John
Lemke, Johannes R.
Wiley-Liss
Universitätsbibliothek Leipzig

Time of origin

2023

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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

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Other Objects (12)

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

FGFR1 variants contributed to families with tooth agenesis

In silico methods for predicting functional synonymous variants

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

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DVA: predicting the functional impact of single nucleotide missense variants

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

FGFR1 variants contributed to families with tooth agenesis

In silico methods for predicting functional synonymous variants

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

In silico comparative characterization of pharmacogenomic missense variants

Pathogenicity Prediction of GABA A Receptor Missense Variants

A framework for exhaustively mapping functional missense variants

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

Evolutionary Diagnosis of non-synonymous variants involved in differential drug response

DVA: predicting the functional impact of single nucleotide missense variants

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

FGFR1 variants contributed to families with tooth agenesis

In silico methods for predicting functional synonymous variants

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

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Pathogenicity Prediction of GABA A Receptor Missense Variants

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Evolutionary Diagnosis of non-synonymous variants involved in differential drug response

DVA: predicting the functional impact of single nucleotide missense variants

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning

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