Varaico: Literature-Extracted Genetic Variants

Gene:USP45
Variant:p.T545S
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USP45

NM_001346022.3:p.T545S

Associated Papers

Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.

Yi Z et al.

Journal of Medical Genetics, 2019

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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."