Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.E12fs
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PLEC

NM_201384.3:p.E12fs

Associated Papers

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 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."