Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P249_F250insFs
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SACS

NM_014363.6:p.P249_F250insFs

Associated Papers

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

Hentschel A et al.

Molecular Neurobiology, 2023

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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."