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Article

A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

21 Mar 2023

Abstract excerpt

Male infertility is a major reproductive disorder, which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality. To date, five male patients with biallelic loss-of-function (LOF) variants of PARN-like ribonuclease domain-containing exonuclease 1 ( PNLDC1 ) have been reported to experience infertility with nonobstructive azoospermia. The aim of this study was to identify...

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PMID: 36960498
DOI: 10.4103/aja20233

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