Case Info Found in supplementary data:

Case#: Patient GT, Female 43 years old. Greek family.

FamilyInfo: Two sisters, one affected.

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0003540, HP:0000967, HP:0031364, HP:0000421, HP:0000225, HP:0000978, HP:0000132

Impaired platelet aggregation, Petechiae, Ecchymosis, Epistaxis, Gingival bleeding, bruising susceptibility, Menorrhagia,

PlateletAgreggation: Light transmission aggregometry studies demonstrated no aggregation in response to ADP, epinephrine, collagen, and arachidonic acid, but a normal response to ristocetin.

GenotypingMethod: Reverse transcription PCR of platelet RNA confirmed the presence of a homozygous β3 C575R mutation.

ClinVar: NA

PAID: PA2573320341 (almost certainly CA400032399 but no c. reported)

Variant: NA

GnomAD: NA

ExpressionEvidence: Flow cytometry demonstrated normal platelet binding of an antibody to GPIb, but virtually no binding of mAb 7E3. Immunoblot analysis demonstrated the presence of <20% of normal β3, with a faint band corresponding to pro-αIIb