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P785: Premature Termination Codon Variants in CHD1 and SF3B2 in a Complex Pedigree with Phenotypic Variability

Jan Verheijen, John O'Shea, Steven Boyden,Thomas Nicholas, Erin Baldwin, Ashley Andrews,Lorenzo Botto,David Viskochil, Russell Butterfield,Pinar Bayrak-Toydemir,Rong Mao

Genetics in Medicine Open（2025）

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