Hypothesis

P4

Case4: P4, gender, age, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Article mentions all patients have a severe bleeding phenotype

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: αIIbβ3 expression levels were (0.6% in patient 4)

PlateletAggregation: N/A

CasePreviousTesting: Acknowledgements section mentions acknowledging the Genoscope team for sequencing both ITGA2B and ITGB3 genes of the GT patients in this article

Gene: ITGA2B

Variant: NM_000419.3:c.857T>A (p.Val268Asp)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805011

gnomAD: N/A

CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion Zygosity:Homozygous Mutation:Missense PreviousTesting:Full CAiD:CA399805011 ProteinExpression:Reported PlateletAggregation:NotReported DiseaseEntity:GlanzmannThrombasthenia inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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