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

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."