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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNB2

Variant:p.R70C

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CACNB2

NM_201596.3:p.R70C

hg38:chr10:18150970 C>T

Associated Papers

A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.

Graziano C et al.

Journal of Autism and Developmental Disorders, 2021

32506348 (PubMed )

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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."