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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRSAM1

Variant:p.L708insFs

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LRSAM1

NM_001005373.4:p.L708insFs

hg38:chr9:127502848 G>GCT

Associated Papers

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen JE et al.

Human Molecular Genetics, 2017

28335037 (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."