Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.T100fs
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MME

NM_007289.4:p.T100fs

Associated Papers

A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.

Tsamis KI et al.

Laboratory Medicine, 2022

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

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

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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."