Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.N322K
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GMPPB

NM_021971.4:p.N322K

Associated Papers

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

Chompoopong P et al.

Genes, 2023

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

Luo S et al.

Neuromuscular Disorders : Nmd, 2017

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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."