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Documents (136) JSON TSV

source DB source ID text # proj. # Ann.
OMIM@xiajingbo 106180-1-ACE In 2 sibs with renal tubular dysgenesis (267430) from a consanguineous Turkish family, Gribouval et 6 0 show
OMIM@xiajingbo 106180-2-ACE Factors involved in the pathogenesis of atherosclerosis, thrombosis, and vasoconstriction contribute 6 0 show
OMIM@xiajingbo 109630-1-ADRB1 The beta-1-adrenergic receptor, a key cell surface signaling protein expressed in the heart and othe 6 0 show
OMIM@xiajingbo 109700-1-B2M In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600) originally repor 6 0 show
OMIM@xiajingbo 109700-2-B2M In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600), Ardeniz 6 0 show
OMIM@xiajingbo 126450-1-DRD2 This variant, formerly titled MYOCLONUS-DYSTONIA SYNDROME, has been reclassified based on the findin 6 0 show
OMIM@xiajingbo 133171-1-EPOR In 3 affected members of a family with familial erythrocytosis (133100) originally reported by Prcha 6 0 show
OMIM@xiajingbo 133430-1-ESR1 McInerney et al. (1996) characterized a human ESR mutant, val364 to glu, which has a single amino ac 6 0 show
OMIM@xiajingbo 147720-1-IL1B Among 310 individuals from eastern India, Chakravorty et al. (2006) found that the frequency of the 6 0 show
OMIM@xiajingbo 147730-1 In a patient with immunodeficiency-41 with lymphoproliferation and autoimmunity (IMD41; 606367), who 5 0 show