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A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility
PURPOSE: We aimed to identify pathogenic variants in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype. METHODS: Whole-exome sequencing was performed in the two affected sisters, and Sanger sequencing was used to confirm the identified variants. The effects of the identifie...
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| Yayımlandı: | J Assist Reprod Genet |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer US
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8190198/ https://ncbi.nlm.nih.gov/pubmed/33604805 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-021-02107-2 |
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