p.Arg752Gln
CaseF8P: Italy
CasePresentingHPOs: N/A
CaseAddInfo: Proband for F8
3 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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mother
CaseExome-3:I-2: Female, Japan, Asian
CasePresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)
HPOsFreeText: Platelet Count at 100 (x (10^9)/l), Platelet Size not done, No bleeding tendency
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: Mother of proband, II-2
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proband
CaseExome-3:II-2: Male, Japan, Asian
CasePresentingHPOs: HP:0001873, HP:0040185, (Thrombocytopenia, Macrothrombocytopenia)
HPOsFreeText: Platelet Count at 77 (x (10^9)/l), Platelet Size at 2.9 ± 0.6 (μm), No bleeding tendency, 49% (2 μm) aggregation ADP
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: Proband for Family Exome-3
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