- Nov 2024
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jmedicalcasereports.biomedcentral.com jmedicalcasereports.biomedcentral.com
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Disease: N/A, variant present in F12 gene
Patient: 36 yo, Female, Saudi descent
Variant:F12 NC_000005.9:g.176,830,269 G>A; p.Gly506Asp Homozygous mutation, exon 12 Located in peptidase S1 domain of F12
Family:
Consanguineous family history (parents first-degree cousins)
No family history of bleeding or thrombosis
Phenotypes:
Significantly high activated partial thromboplastin time
No history of bleeding during deliveries or tooth extractions
No history of thrombosis or skin manifestations
On no medications, physical examination unremarkable
Factor assays and VWF tests within normal ranges except Factor XII (Severely deficient)
variant is proposed to be deleterious but there is insufficient evidence to support this claim.
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- Oct 2023
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libcal.library.upenn.edu libcal.library.upenn.edu
- Mar 2023
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Local file Local file
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Hatti reached the pinnacle of its power between about 1430 and 1200 B.C., during the period known as the NewKingdom
The New Kingdom from around 1430 to 1200 BCE was the peak of Hatti power in the ancient Near East.
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