Varaico: Literature-Extracted Genetic Variants

Gene:USP9X
Variant:p.S1012P
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USP9X

NM_001039591.3:p.S1012P

Associated Papers

Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.

Agazzi C et al.

Molecular Syndromology, 2023

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

Paemka L et al.

Plos Genetics, 2015

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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."