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227500.6
Home
Subject Details
Country
Arab
HPO Terms
Reduced factor VII activity
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000131.4:c.572-392C>G
1
NA
Factor VII Deficiency
NC_000013.11:g.113105517_113105518insCCTATATCCT
2
NA
Factor VII Deficiency
NM_000131.4:c.1238G>A
2
NA
Factor VII Deficiency
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Remarks
Proband #377 in the publication
References
Ferraresi et al, 2020
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