Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.W606*
Back to variants list

MME

NM_007289.4:p.W606*

Associated Papers

Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.

Hong D et al.

Annals of Clinical and Translational Neurology, 2019

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M et al.

American Journal of Human Genetics, 2016

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y et al.

Annals of Neurology, 2016

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."