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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM2

Variant:p.W525L

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DNM2

NM_001005361.3:p.W525L

hg38:chr19:10812280 G>T

Associated Papers

A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.

Puri C et al.

Developmental Cell, 2020

32315611 (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."