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UnknownQuantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
Not available
S-EPMC3959810 | biostudies-literature
UnknownWhole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Not available
S-EPMC3928660 | biostudies-literature
UnknownTGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Not available
S-EPMC4033668 | biostudies-literature
UnknownJoint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Not available
S-EPMC3852929 | biostudies-literature
UnknownAnalysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Not available
S-EPMC3676746 | biostudies-literature
UnknownExome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Not available
S-EPMC3815606 | biostudies-literature
UnknownCommon and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Not available
S-EPMC3724194 | biostudies-literature
UnknownRare loss of function variants in candidate genes and risk of colorectal cancer.
Not available
S-EPMC6283057 | biostudies-literature
UnknownPathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Not available
S-EPMC4129409 | biostudies-literature
UnknownRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
Not available
S-EPMC4673986 | biostudies-literature
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