Varaico: Literature-Extracted Genetic Variants

Gene:GFPT1
Variant:p.R239insFs
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GFPT1

NM_001244710.2:p.R239insFs

Associated Papers

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

Zhang R et al.

Disease Models & Mechanisms, 2024

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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."