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Article

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.

Journal of assisted reproduction and genetics - 1 May 2024

Ye Zhiqi, Li Da, Niu Xiangli, Yang Aimin, Pan Zhiqi, Yu Ran, Gu Hao, Shi Rong, Wu Ling, Xiang Yanfang, Hao Guimin, Kuang Yanping, Chen Biaobang, Wang Lei, Sang Qing, Li Lin, Shi Juanzi, Li Qiaoli

Abstract excerpt

AIM: Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38536595
DOI: 10.1007/s10815-024-03071-3
PMCID: PMC11143103

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