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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1C

Variant:p.V1167A

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CACNA1C

NM_000719.7:p.V1167A

hg38:chr12:2608654 T>C

Associated Papers

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Orphanet Journal of Rare Diseases, 2024

39580446 (PubMed )

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38826393 (PubMed )

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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."