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231200.1
Home
Subject Details
Country
Syria
HPO Terms
Bruising susceptibility; Epistaxis; Macrothrombocytopenia
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000407.4:c.423C>A
2
Bernard-Soulier Syndrome
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Remarks
Proband
References
Mahfouz et al., 2012
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