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Additional file 1 of Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

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posted on 2024-04-16, 04:22 authored by Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir
Additional file 1: Supplementary Fig. 1. Overview of the study. Flow chart depicting study design. We performed a retrospective analysis of 47 sibling pairs diagnosed with neurodevelopmental disorders (NDDs) within the Baylor Hopkins Center for Mendelian Genomics (BHCMG) cohort. The variants responsible for their phenotypes were previously documented by Karaca et al. (n = 24) [17] and Mitani et al. (n = 23) [4].

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