Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L1359L
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CACNA1A

NM_001127222.2:p.L1359L

Associated Papers

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN et al.

Pediatric Research, 2020

31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C et al.

Neurogenetics, 2013

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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."