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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
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1 to 1 of 1 Research Studies DisplayedGallego CJ, Burt A, Sundaresan AS
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
The researchers used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of hereditary hemochromatosis ( HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
AHRQ-funded; HS021686.
Citation: Gallego CJ, Burt A, Sundaresan AS .
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Am J Hum Genet 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008..
Keywords: Electronic Health Records (EHRs), Genetics, Health Information Technology (HIT)