Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.N749H
Back to variants list

CAPN3

NM_000070.3:p.N749H

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › TCGA

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

Stehlíková K et al.

Neuromuscular Disorders : Nmd, 2007

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.

Hermanová M et al.

Muscle & Nerve, 2006

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."