Varaico: Literature-Extracted Genetic Variants

Gene:FGF10
Variant:p.R80S
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FGF10

NM_004465.2:p.R80S

Associated Papers

Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report.

Escalante-Reyes M et al.

Molecular Syndromology, 2025

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Schütz K et al.

Pediatric Pulmonology, 2023

Phenotypic spectrum of FGF10-related disorders: a systematic review.

Bzdega K et al.

Peerj, 2022

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.

Seymen F et al.

Clinical Oral Investigations, 2017

Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function.

Mikolajczak M et al.

The Biochemical Journal, 2016

A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?

Puk O et al.

Investigative Ophthalmology & Visual Science, 2009

Molecular pathology of the fibroblast growth factor family.

Krejci P et al.

Human Mutation, 2009

Case report: aplasia of the lacrimal and major salivary glands (ALSG).

Chapman DB et al.

International Journal of Pediatric Otorhinolaryngology, 2009

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

Scheckenbach K et al.

Bmc Medical Genetics, 2008

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca.

Krüger V et al.

Pediatric Surgery International, 2008

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Entesarian M et al.

European Journal of Human Genetics : Ejhg, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."