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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN2

Variant:p.A716P

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MFN2

NM_014874.4:p.A716P

hg38:chr1:12009668 G>C

Associated Papers

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L et al.

Journal of the Peripheral Nervous System : Jpns, 2018

29341354 (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."