Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.W24*
Back to variants list

MME

NM_007289.4:p.W24*

Associated Papers

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Senderek J et al.

Neurology, 2020

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

Hong D et al.

Annals of Clinical and Translational Neurology, 2019

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.

Lupo V et al.

Journal of Medical Genetics, 2018

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

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."