title: Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
authors.affiliation: Division of Hematology/Oncology, Boston Children's Hospital and.
authors.forename: Vijay G
authors.initials: VG
authors.lastname: Sankaran
authors.forename: Mugdha
authors.initials: M
authors.lastname: Joshi
authors.forename: Akshat
authors.initials: A
authors.lastname: Agrawal
authors.forename: Klaus
authors.initials: K
authors.lastname: Schmitz-Abe
authors.forename: Meghan C
authors.initials: MC
authors.lastname: Towne
authors.forename: Nicholas
authors.initials: N
authors.lastname: Marinakis
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Markianos
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
authors.forename: Pankaj B
authors.initials: PB
authors.lastname: Agrawal
mesh_terms: D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism; D019204:GTP-Binding Proteins / Q000235:genetics; D020570:Genes, myb; D055106:Genome-Wide Association Study; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics; D006402:Hematologic Diseases / Q000097:blood / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010445:Peptide Elongation Factors / Q000235:genetics; D010641:Phenotype
chemical_list: D018840:HSP70 Heat-Shock Proteins; D010445:Peptide Elongation Factors; D005319:Fetal Hemoglobin; D019204:GTP-Binding Proteins; C000628258:HBS1L protein, human