Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of < em > PRDM13 < /em > causing North Carolina macular dystrophy in Korea

CONCLUSION: We identified two novel NCMD variants in the Korean population and further validated the regulatory role of the DNase1 hypersensitivity site upstream of PRDM13.PMID:38601016 | PMC:PMC11006008

Source: Molecular Vision - April 11, 2024 Category: Molecular Biology Authors: Yuri Seo Kwangsic Joo Junwon Lee Amber Diaz Sohyun Jang Timothy J Cherry Kinga M Bujakowska Jinu Han Se Joon Woo Kent W Small Source Type: research