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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN2

Variant:p.Q142*

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CAPN2

NM_001748.5:p.Q142*

hg38:chr1:223744216 C>T

Associated Papers

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 2022

35001666 (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."