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Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>.
Not available
S-EPMC9554069
|
biostudies-literature
Cite
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Not available
S-EPMC3928660
|
biostudies-literature
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Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Not available
S-EPMC3852929
|
biostudies-literature
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Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Not available
S-EPMC3738837
|
biostudies-literature
Cite
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Not available
S-EPMC4319990
|
biostudies-literature
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Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Not available
S-EPMC3842025
|
biostudies-literature
Cite
Common 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
Cite
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Not available
S-EPMC6283057
|
biostudies-literature
Cite
Pathogenic 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
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Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Not available
S-EPMC3702264
|
biostudies-literature
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