Pathogenic variants that alter protein code often disrupt splicing
Rachel Soemedi(Brown University), Kamil J. Cygan(Brown University), Christy L. Rhine(Brown University), Jing Wang(Brown University), Charlston Bulacan(Brown University), John Yang(Brown University), Pınar Bayrak‐Toydemir(University of Utah), Jamie McDonald(University of Utah), William G. Fairbrother(Brown University)
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