Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.L58P
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FGF3

NM_005247.4:p.L58P

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

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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."