Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene.

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Title: Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene.
Authors: Bhandary P; Central Research Laboratory, K.S. Hegde Medical Academy (KSHEMA), NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India., Ghate SD; Center for Bioinformatics and Biostatistics, NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India., Patil P; Central Research Laboratory, K.S. Hegde Medical Academy (KSHEMA), NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India. prakashpatil@nitte.edu.in., Shetty P; Department of Biochemistry, K.S. Hegde Medical Academy, NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India., Shetty PK; IVF Fertility and Reproductive Medicine Centre, Justice KS Hegde Charitable Hospital, K.S. Hegde Medical Academy, NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India., Nalilu SK; Department of Biochemistry, K.S. Hegde Medical Academy, NITTE (Deemed to be University), Mangaluru, Karnataka, 575018, India.
Source: Biochemical genetics [Biochem Genet] 2026 Apr; Vol. 64 (2), pp. 1744-1764. Date of Electronic Publication: 2025 Apr 21.
Publication Type: Journal Article
Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-4927
DOI:10.1007/s10528-025-11106-2