Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.T1341M
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CACNA1A

NM_001127221.2:p.T1341M

Associated Papers

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Weyhrauch DL et al.

Pediatric Neurology, 2016

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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."