Varaico: Literature-Extracted Genetic Variants

Gene:FGF16
Variant:p.R179*
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FGF16

NM_003868.3:p.R179*

Associated Papers

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Cassim A et al.

Orphanet Journal of Rare Diseases, 2022

Genetic Overview of Syndactyly and Polydactyly.

Ahmed H et al.

Plastic and Reconstructive Surgery. Global Open, 2017

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H et al.

Current Genomics, 2015

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T et al.

Molecular Genetics & Genomic Medicine, 2014

Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.

Jones B et al.

Clinical Dysmorphology, 2014

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A et al.

Journal of Medical Genetics, 2013

A primer for Fibroblast Growth Factor 16 (FGF16).

Rigueur D

Differentiation; Research in Biological Diversity, 0

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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."