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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEMF

Variant:p.S817fs

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NEMF

NM_004713.6:p.S817fs

hg38:chr14:49799489 T>TN

Associated Papers

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Martin PB et al.

Nature Communications, 2020

32934225 (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."