Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.R261G
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GGPS1

NM_004837.4:p.R261G

Associated Papers

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Altassan R et al.

American Journal of Medical Genetics. Part A, 2024

GGPS1-associated muscular dystrophy with and without hearing loss.

Kaiyrzhanov R et al.

Annals of Clinical and Translational Neurology, 2022

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Foley AR et al.

Annals of Neurology, 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."