Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G755R
Back to variants list

CAPN3

NM_000070.3:p.G755R

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Winckler PB et al.

Clinical Genetics, 2019

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Stehlíková K et al.

Clinical Genetics, 2017

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."