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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN2

Variant:p.Q276K

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MFN2

NM_014874.4:p.Q276K

hg38:chr1:12001410 C>A

Associated Papers

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Winder TL et al.

Neurology. Genetics, 2020

32337338 (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."