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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCK

Variant:p.Q31L

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HCK

NM_002110.5:p.Q31L

hg38:chr20:32071691 A>T

Associated Papers

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.

Woodman SE et al.

Neurology, 2004

14981167 (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."