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612416.1.1
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Subject Details
Country
Lebanon
HPO Terms
Asymptomatic; Prolonged partial thromboplastin time
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000128.3:c.1778C>T
2
Factor XI Deficiency
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References
Germanos-Haddad et al, 2005
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