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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN3

Variant:p.Q728_K729Splc

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CAPN3

NM_000070.3:p.Q728_K729Splc

hg38:chr15:42410497 G>T

Associated Papers

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Park HJ et al.

Yonsei Medical Journal, 2016

26632398 (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."