1.Adult woman/France
Case1: (Patient 1) Woman (adult), age not specific, France
DiseaseAssertion: Glanzmann thrombasthenia (also have undergone deep vein thrombosis)
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: Moderate bleeding according to Table 1
CaseNotHPOs: N/A
ProteinExpression: Trace amounts of residual alphaIIbbeta3 (this is all that was mentioned)
Platelet Aggregation: Absent platelet aggregation (this is all that was mentioned)
CasePreviousTesting: N/A
Gene: ITGB3
Variant: NM_000212.2:c.1448G>A (p.Cys483Tyr)
LegacyVariant: (p.Cys457Tyr)
ClinVar: N/A
CAiD: CA400029324
gnomAD N/A
PreviouslyPublished: 12152649 and 21848888