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Article

Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in RBMXL2: A case report.

Andrologia - 1 Dec 2022

Ghieh Farah, Izard Vincent, Poulain Marine, Fortemps Johanne, Kazdar Nadia, Mandon-Pepin Béatrice, Ferlicot Sophie, Ayoubi Jean Marc, Vialard François

Abstract excerpt

Gene expression in meiotic cells in the testis is characterized by intense transcriptional activity and alternative splicing. These processes are mainly controlled by RNA-binding proteins expressed strongly in germ cells. Functional impairments in any of these proteins' functions can lead to defects in meiosis and thus severe male infertility. Here, we have identified a homozygous frameshift mutation...

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Identifiers

PMID: 36102209
DOI: 10.1111/and.14595

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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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