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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7, 10713 (2016).
POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8, 3 (2016).
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).