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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN2

Variant:p.S378_M381del0

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MFN2

NM_014874.4:p.S378_M381del0

hg38:chr1:12002076 CCCTGCACAT>C

Associated Papers

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K et al.

Brain : a Journal of Neurology, 2006

16714318 (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."