Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.A233_P236del4
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USP14

NM_005151.4:p.A233_P236del4

Associated Papers

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Turgut GT et al.

Clinical Genetics, 2024

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

Ebstein F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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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."