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A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell only-syndrome

2022-07-14

Abstract excerpt

<title>Abstract</title> <p>Background The most serious condition of male infertility is complete Sertoli cell-only syndrome (SCOS), referring to lack of all spermatogenic cells in testes. Genetic cause of SCOS remains to be explored. We aimed to investigate the genetic cause of SCOS and assess the effects of the identified causative variant on human male germ cells. Methods Whole-exome sequencing was performed...

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Literature Corpus work
bcd7af81-e79d-5aff-9b9a-40f3d62af1f7
DOI
10.21203/rs.3.rs-1773547/v1
Open publication

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A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell only-syndromeDOI 10.21203/rs.3.rs-1773547/v1
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