Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.E746E
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CAPN3

NM_000070.3:p.E746E

Associated Papers

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

Pushkov A et al.

Frontiers in Molecular Biosciences, 2025

41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR et al.

Annals of Clinical and Translational Neurology, 2018

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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."