Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.R888Splc
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CACNA1C

NM_000719.7:p.R888Splc

Associated Papers

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

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

34436362 (PubMed )
Supplement: membranes-11-00599-s001.zip › membranes-1307172-supplementary.xlsx › Table_S1
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