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Filters: Keyword is Mutation and Author is Demars, Julie [Clear All Filters]
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. J Med Genet. 2014;51(8):502-11. doi:10.1136/jmedgenet-2014-102368.