Case: 20 year old female French Gypsy

CasePresentingHPOs: HP:0001975

(Decreased platelet glycoprotein IIb-IIIa)

GenotypingMethod:Genotyping analysis of the HPA-1 system by high resolution melting analysis (methods not provided, cited article I don't have access too)

not highly specific mutation: "p.Gln228/p.Arg584"

Allele1

ClinVar: Not found

CAID: PA913203366

Variant: NP_000410.2:p.Gln228Ter

GnomAD: not found

Allele 2

ClinVar: Not found

CAID: PA115836

Variant: NP_000410.2:p.Arg584Ter

GnomAD: Not found

ExpressionEvidence: "Severe defective surface expression" of platelet surface αIIbβ3 integrin (methods not provided cited article no access too)