Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.E475G
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CAPN3

NM_000070.3:p.E475G

Associated Papers

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

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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."