Article

Novel mutation leading to splice donor loss in a conserved site of<i>DMD</i>causes cryptorchidism

2024-01-30

Abstract excerpt

<h4>Background</h4> As one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic etiology according to previous studies of common variants. However, little is known about genetic predisposition of rare variants for cryptorchidism, since rare variants have larger effective size on diseases than common variants. <h4>Methods</h4> In this study, a cohort of 115 C...

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Literature Corpus work: 243067d0-0a2a-5724-93bc-8f22d8a47c85
DOI: 10.1101/2024.01.29.24301909

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