Varaico: Literature-Extracted Genetic Variants

Gene:MMP12
Variant:p.G225A
Back to variants list

MMP12

NM_002426.6:p.G225A

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

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

Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation.

Pereira NL et al.

Journal of Molecular and Cellular Cardiology, 2010

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."