Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.Q187*
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GMPPB

NM_021971.4:p.Q187*

Associated Papers

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

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Panicucci C et al.

Jimd Reports, 2018

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz PM et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya K et al.

Brain : a Journal of Neurology, 2015

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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."