Varaico: Literature-Extracted Genetic Variants

Gene:OTUD5
Variant:p.G494S
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OTUD5

NM_017602.4:p.G494S

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

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

Tripolszki K et al.

Clinical Genetics, 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."