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Article

A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia

26 Dec 2023

Abstract excerpt

Nonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding of its genetic etiology. Here, a bi-allelic loss-of-function variant in REC114 (c.568C > T: p.Gln190*) were identified through whole exome sequencing (WES) in a Chinese NOA patient. Testicular histopathological analysis and meiotic chromosomal spread analysis were conducted to assess the stage...

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PMID: 38148155
DOI: 10.1111/cge.14473

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