Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.V403M
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CACNA1C

NM_000719.7:p.V403M

Associated Papers

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.

Underwood JFG et al.

Research Square, 2025

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Orphanet Journal of Rare Diseases, 2024

A Natural History Study of Timothy Syndrome.

Timothy KW et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan LH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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