Case#: Jin_1993_AH. female

DiseaseAssertion: type 1 GT

FamilyInfo: child had a mutation (not this specific one)

ParentalGenotype:

CasePresentingHPOs: type 1 GT symptoms

PlateletAggregation:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

ProteinExpression:

CasePreviousTesting:

PreviouslyPublished:

Gene: ITGB3

Variant: G → A substitution in the splice donor site of the exon iv-intron junction

HGVS: NM_000212.3:c.614+1G>A

ClinVar:

CAID: CA400023342

gnomAD: