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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP48

Variant:p.K459_Q460ins2

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USP48

NM_032236.8:p.K459_Q460ins2

hg38:chr1:21728642 G>GCGAATT

Associated Papers

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

Sánchez-Bellver L et al.

International Journal of Molecular Sciences, 2022

36293380 (PubMed )

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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."