Varaico: Literature-Extracted Genetic Variants

Gene:OTUD7A
Variant:p.F375delFs
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OTUD7A

NM_001382637.1:p.F375delFs

Associated Papers

Deubiquitinases in muscle physiology and disorders.

Olie CS et al.

Biochemical Society Transactions, 2024

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.

Suzuki H et al.

American Journal of Medical Genetics. Part A, 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."