Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.P116S
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GMPPB

NM_021971.4:p.P116S

Associated Papers

A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects.

Ramezani M et al.

Muscle & Nerve, 2026

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Chompoopong P et al.

Genes, 2023

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Sun L et al.

Bosnian Journal of Basic Medical Sciences, 2020

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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."