Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R531C
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CACNA1S

NM_000069.3:p.R531C

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

41574092 (PubMed )
Supplement: fcag003_supplementary_data.zip › Supplementary_Tables_S1-S6.xlsx › Supplemental_Table_S4

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

Vo JN et al.

Acta Neuropathologica Communications, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

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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."