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A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility
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) ha...
Autores principales: | Zhao, Si-Yi, Meng, Lan-Lan, Du, Zhao-Li, Tan, Yue-Qiu, He, Wen-Bin, Wang, Xiong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521959/ https://www.ncbi.nlm.nih.gov/pubmed/36960498 http://dx.doi.org/10.4103/aja20233 |
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