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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP8

Variant:p.S718_P720delins

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USP8

NM_005154.5:p.S718_P720delins

hg38:chr15:50490443 TCCTCCC>A

Associated Papers

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.

Rebollar-Vega RG et al.

Archives of Medical Research, 2023

37925320 (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."