Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.K850_M851Splc
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CACNA1S

NM_000069.3:p.K850_M851Splc

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_5.xlsx › SuppData_5

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-2-jnd-10.3233_jnd-180376.xlsx › Blad1
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