Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.G66C
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FGF3

NM_005247.4:p.G66C

Associated Papers

A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.

Zhang K et al.

Biochemical Genetics, 2025

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.

Jamshidi F et al.

Molecular Genetics & Genomic Medicine, 2023

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

Al Yassin A et al.

Genes, 2019

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A et al.

American Journal of Medical Genetics. Part A, 2011

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

Riazuddin S et al.

Bmc Medical Genetics, 2011

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Ramsebner R et al.

The Laryngoscope, 2010

Molecular pathology of the fibroblast growth factor family.

Krejci P et al.

Human Mutation, 2009

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O et al.

European Journal of Human Genetics : Ejhg, 2009

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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."