Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest

Background: This study aims to describe clinical and diagnostic phenotype and identify pathogenic variants of a female with unknown causes of infertility. Methods: Clinical assessment was performed for the phenotype diagnosis. Whole-exome sequencing (WES) and the followed cDNA-PCR sequencing were ap...

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Detalles Bibliográficos
Autores principales: Sun, Liwei, Tong, Keya, Liu, Weiwei, Tian, Yin, Yang, Sheng, Zhou, Danni, Liu, Dongyun, Huang, Guoning, Li, Jingyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441802/
https://www.ncbi.nlm.nih.gov/pubmed/36072676
http://dx.doi.org/10.3389/fgene.2022.967288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441802/
https://www.ncbi.nlm.nih.gov/pubmed/36072676
http://dx.doi.org/10.3389/fgene.2022.967288

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