Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.Y208*
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GMPPB

NM_021971.4:p.Y208*

Associated Papers

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Dubé J et al.

Neurology, 2025

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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."