Article

Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS

2024-07-08

Abstract excerpt

<title>Abstract</title> <p>Polycystic ovary syndrome (PCOS) is the most common endocrinopathy and is both phenotypically and genotypically heterogeneous. A large number of genetic variants have been found in different genes, so far. Based on the literature, we identified 7 genes and aimed to find new causative variants in these genes. We created a targeted PCOS panel including major genes in the steroidogenezis,...

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Literature Corpus work: 086c86f5-571a-58f0-99bc-63cf8384c272
DOI: 10.21203/rs.3.rs-4535212/v1

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