Varaico: Literature-Extracted Genetic Variants

Gene:FGF10
Variant:p.S143_K144Splc
Back to variants list

FGF10

NM_004465.2:p.S143_K144Splc

Associated Papers

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.

Li Y et al.

Investigative Ophthalmology & Visual Science, 2025

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

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Freund O et al.

American Journal of Medical Genetics. Part A, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."