Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.R133Splc
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PUS7

NM_019042.5:p.R133Splc

Associated Papers

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

Han ST et al.

Molecular Genetics and Metabolism, 2022

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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."