Varaico: Literature-Extracted Genetic Variants

Gene:OTUD5
Variant:p.V161_G164del0
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OTUD5

NM_001136157.2:p.V161_G164del0

Associated Papers

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Tian W et al.

Molecular Genetics & Genomic Medicine, 2024

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Beck DB et al.

Science Advances, 2021

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.

Saida K et al.

Frontiers in Cell and Developmental Biology, 2021

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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."