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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN2

Variant:p.R280L

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MFN2

NM_014874.4:p.R280L

hg38:chr1:12001423 G>T

Associated Papers

Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.

Kawaguchi K

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2013

22785106 (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."