Article

Mode of inheritance needs to be accounted for in interpreting genotype-phenotype links in monogenic disorders

2023-09-27

Abstract excerpt

<h4>Introduction</h4> A recently published study by Ke et al . utilized whole exome sequencing (WES) to screen genetic variants contributing to premature ovarian insufficiency (POI) in a large cohort of 1,030 patients from China (doi: 10.1038/s41591-022-02194-3). The authors reported that 285 likely pathogenic (LP) and pathogenic (P) variants identified in 79 genes contributed to POI in 242 study subjects, represe...

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Literature Corpus work: 08590060-b8ca-5c80-a7b3-22e9d337fb51
DOI: 10.1101/2023.09.26.23296051

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