Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.L272R
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CACNA1D

NM_001128840.3:p.L272R

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_MOESM10_ESM.xlsx › rank2023

CACNA1D-Related Channelopathies: From Hypertension to Autism.

Ortner NJ

Handbook of Experimental Pharmacology, 2023

Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.

Omata K et al.

Hypertension (dallas, Tex. : 1979), 2018

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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."