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Article

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report.

European journal of clinical investigation - 1 Apr 2023

Bitarafan Fatemeh, Razmara Ehsan, Jafarinia Ehsan, Almadani Navid, Garshasbi Masoud

Abstract excerpt

BACKGROUND: DNA-directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663). A large Iranian family with congenital hearing loss and infertility is described here with genetic and clinical characterizations of five male patients. METHODS: After doing clinical examinations, the proband was subjected to karyotyping and GJB2/6 sequencing to...

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Identifiers

PMID: 36576366
DOI: 10.1111/eci.13946

Provenance

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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