Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.A100_M101Splc
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USP14

NM_005151.4:p.A100_M101Splc

Associated Papers

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Turgut GT et al.

Clinical Genetics, 2022

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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."