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Article

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

Journal of human genetics - 1 Feb 2021

Alhebbi Hamoud, Peer-Zada Abdul Ali, Al-Hussaini Abdulrahman A, Algubaisi Sara, Albassami Awad, AlMasri Nasser, Alrusayni Yasir, Alruzug Ibrahim M, Alharby Essa, Samman Manar A, Ayoub Syed Zubair, Maddirevula Sateesh, Peake Roy W A, Alkuraya Fowzan S, Wali Sami, Almontashiri Naif A M

Abstract excerpt

Biallelic variants in the USP53 gene have recently been reported to segregate with normal gamma glutamyltransferase (GGT) cholestasis. Using whole-exome sequencing (WES), we detected two USP53 homozygous variants (c.951delT; p. Phe317fs and c.1744C>T; p. Arg582*) in five additional cases, including an unpublished cousin of a previously described family with intractable itching and normal GGT cholestasis. Three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32759993
DOI: 10.1038/s10038-020-0811-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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