Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.I217S
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MME

NM_007289.4:p.I217S

Associated Papers

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Grosz BR et al.

Journal of the Peripheral Nervous System : Jpns, 2024

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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."