Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V150Splc
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MPZ

NM_000530.8:p.V150Splc

Associated Papers

Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutation.

El-Wahsh S et al.

Muscle & Nerve, 2023

Myelin protein zero-related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies.

Halliwell NF et al.

Muscle & Nerve, 2023

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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."