Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.S141G
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CAV3

NM_033337.3:p.S141G

Associated Papers

Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.

Yang G et al.

Journal of Human Genetics, 2025

39548192 (PubMed )
Supplement: 10038_2024_1305_MOESM1_ESM.docx

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.

Al-Tahan S et al.

Neurology. Genetics, 2019

Genome Sequence of Peacock Reveals the Peculiar Case of a Glittering Bird.

Jaiswal SK et al.

Frontiers in Genetics, 2018

30283495 (PubMed )
Supplement: Table_5.XLSX › SIFT_genes_sites
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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."