Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.K472_A473Splc
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MME

NM_007289.4:p.K472_A473Splc

Associated Papers

A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.

Zhang B et al.

Bmc Medical Genomics, 2024

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

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

Hong D et al.

Annals of Clinical and Translational Neurology, 2019

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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."