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USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease.

Endocrine - 1 Feb 2022

Abraham Ananth P, Pai Rekha, Beno Daniel L, Chacko Geeta, Asha Hesarghatta Shyamasunder, Rajaratnam Simon, Kapoor Nitin, Thomas Nihal, Chacko Ari G

Abstract excerpt

PURPOSE: To estimate the prevalence of USP8, USP48, and BRAF mutations in patients with Cushing's disease (CD) from the Indian subcontinent, and determine their genotype-phenotype correlation. METHODS: We prospectively recruited 46 patients with CD who underwent surgery between September 2015 and July 2019 at our institute. Fresh frozen tumour tissue was obtained in all patients. Using Sanger sequencing, the...

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PMID: 34664215
DOI: 10.1007/s12020-021-02903-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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