New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot.
Kent W SmallStijn Van de SompeleJessica AvetisjanNitin UdarSteven AgemyElfride De BaereFadi S ShayaPublished in: Journal of vitreoretinal diseases (2023)
This suggests that this site, chr6:99593030, is a mutational hotspot.
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