Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R21
Variant:p.D747_H748insAG
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PPP1R21

NM_001135629.3:p.D747_H748insAG

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."