Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R707P
Back to variants list

MFN2

NM_014874.4:p.R707P

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G et al.

Neuromolecular Medicine, 2014

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.

Schreiber S et al.

Muscle & Nerve, 2013

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Vielhaber S et al.

Acta Neuropathologica, 2013

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS et al.

Brain : a Journal of Neurology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."