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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN2

Variant:p.I113_A115del3

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MFN2

NM_014874.4:p.I113_A115del3

hg38:chr1:11996180 GATCAATGCC>G

Associated Papers

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA et al.

American Journal of Medical Genetics. Part A, 2016

26955893 (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."