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Documents (136) JSON TSV
 

source DB source ID text # proj. # Ann.
OMIM@xiajingbo 102560-10-ACTG1 Riviere et al. (2012) reported a single individual with Baraitser-Winter syndrome-2 (BRWS2; 6145 6 0 show
OMIM@xiajingbo 102560-11-ACTG1 In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified 6 0 show
OMIM@xiajingbo 102560-12-ACTG1 In an individual with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) identified 6 0 show
OMIM@xiajingbo 102560-9-ACTG1 In 3 unrelated individuals with Baraitser-Winter syndrome-2 (BRWS2; 614583), Riviere et al. (2012) i 6 0 show
OMIM@xiajingbo 102565-4-FLNC In affected members of an Italian family with autosomal dominant distal myopathy-4 (MPD4; 614065), D 6 0 show
OMIM@xiajingbo 102610-16-ACTA1 In an infant with nemaline myopathy-3 (NEM3; 161800) who presented with an atypical phenotype of sti 6 0 show
OMIM@xiajingbo 102610-1-ACTA1 In 2 infant sibs with severe autosomal recessive nemaline myopathy-3 (NEM3; 161800) leading to death 6 0 show
OMIM@xiajingbo 102630-2-ACTB In 7 of 10 patients with Baraitser-Winter syndrome-1 (BRWS1; 243310), Riviere et al. (2012) identifi 6 0 show
OMIM@xiajingbo 102630-4-ACTB In a patient with Baraitser-Winter syndrome-1 (BRWS1; 243310), Riviere et al. (2012) identified a de 6 0 show
OMIM@xiajingbo 103600-35-ALB In albumin Casebrook, an electrophoretically slow albumin variant with a relative molecular mass of 6 0 show