4
Case4: Male, Iraq, age not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000421, HP:0002105, HP:0031364
(Epistaxis, hemoptysis, ecchymosis)
CaseHPOFreeText: Intracranial at birth, haematemesis, haematuria
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: N/A
PlateletAggregation:
CasePreviousTesting: N/A
Gene: ITGA2B
Variant: NM_000419.3:c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACC
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA915940595
gnomAD: N/A
PreviouslyPublished: 7529063