Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.V206delFs
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FGF3

NM_005247.4:p.V206delFs

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

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

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1

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

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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."