Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S251T
Back to variants list

GJA1

NM_000165.5:p.S251T

Associated Papers

Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.

Machado RA et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2023

GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Wu Q et al.

Forensic Science International, 2017

Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.

Sun B et al.

Computational and Mathematical Methods in Medicine, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Campuzano O et al.

European Journal of Medical Genetics, 2012

Mutations of connexin43 in fetuses with congenital heart malformations.

Chen P et al.

Chinese Medical Journal, 2005

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."