Varaico: Literature-Extracted Genetic Variants

Gene:FGF10
Variant:p.R193*
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FGF10

NM_004465.2:p.R193*

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1

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

Bzdega K et al.

Peerj, 2022

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA et al.

American Journal of Human Genetics, 2019

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

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

LADD syndrome is caused by FGF10 mutations.

Milunsky JM et al.

Clinical Genetics, 2006

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

Entesarian M et al.

Nature Genetics, 2005

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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."