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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN3

Variant:p.K773_H774insFs

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CAPN3

NM_000070.3:p.K773_H774insFs

hg38:chr15:42410934 G>GACAA

Associated Papers

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.

Nallamilli BRR et al.

Annals of Clinical and Translational Neurology, 2023

37688281 (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."