Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.F257C
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GGPS1

NM_004837.4:p.F257C

Associated Papers

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.

Rahmuni Y et al.

Molecular Genetics & Genomic Medicine, 2026

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

de Feraudy Y et al.

Genome Medicine, 2024

38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2

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

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.

Chennen K et al.

Plos One, 2020

32735577 (PubMed )
Supplement: pone.0236962.s019.xlsx › S14_Table
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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."