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    P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

    P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability by Jan Verheijen, John O'Shea, Steven Boyden, Thomas Nicholas, Erin Baldwin, Ashley Andrews, Lorenzo Botto, David Viskochil, Russell Butterfield, Pinar Bayrak-Toydemir, Rong Mao

    Published 2025-01-01
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