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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1C

Variant:p.I1152N

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CACNA1C

NM_000719.7:p.I1152N

hg38:chr12:2608609 T>A

Associated Papers

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )

Supplement: 41431_2024_1594_MOESM1_ESM.docx

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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."