Varaico: Literature-Extracted Genetic Variants

Gene:GFPT1
Variant:p.G241insFs
Back to variants list

GFPT1

NM_001244710.2:p.G241insFs

Associated Papers

Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.

Zhang R et al.

Disease Models & Mechanisms, 2024

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Jiang K et al.

Brain and Behavior, 2022

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation.

Matsumoto C et al.

Brain & Development, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."