Varaico: Literature-Extracted Genetic Variants

Gene:MMP12
Variant:p.I220F
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MMP12

NM_002426.6:p.I220F

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

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

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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."