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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
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Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
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Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 06; 95(5):535-52.
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subject areas
Computer Simulation
Genetic Diseases, Inborn
Genetic Variation
Genome-Wide Association Study
Humans
Inheritance Patterns
Models, Genetic
Open Reading Frames
Regulatory Elements, Transcriptional
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Jubao Duan