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Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Andrology. 2022 Nov;10(8):1605-1624. doi: 10.1111/andr.13269. Epub 2022 Sep 7.
Andrology. 2022.
PMID: 36017582
Free PMC article.
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM50B (ge …
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, T …
[Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy].
Liu L, Wang L, Jiao Z, Kong X.
Liu L, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):869-872. doi: 10.3760/cma.j.cn511374-20200324-00196.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021.
PMID: 34487533
Chinese.
SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM4 …
SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was …
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