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Genetic analysis of families with GUCY2D variants. (A) Pedigrees of MOL0064 and MOL0380. Affected individuals are marked with a filled symbol. Index cases are marked by arrows. When available, the genotype is depicted below the individual symbol. (B) Chromatograms of novel missense variants in GUCY2D. (C) Sequence alignment of GUCY2D proteins in the variants regions.
