Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R489C
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CACNA1S

NM_000069.3:p.R489C

Associated Papers

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Aihara K et al.

Acta Neuropathologica Communications, 2017

28270234 (PubMed )
Supplement: 40478_2017_422_MOESM1_ESM.xlsx › 3_Mutations

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt
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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."