Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.E34K
Back to variants list

CAV3

NM_033337.3:p.E34K

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J et al.

Journal of Neuromuscular Diseases, 2016

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Di Fruscio G et al.

European Journal of Human Genetics : Ejhg, 2016

25898921 (PubMed )
Supplement: ejhg201576x1.xls › Sheet1

MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndrome.

Hedley PL et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2014

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP et al.

Neuromuscular Disorders : Nmd, 2008

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."