Functional Variants

In-silico investigation of coding variants potentially affecting the functioning of the glutamatergic N-methyl-D-aspartate receptor in schizophrenia [10.1097/YPG.0000000000000216]

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Abstract 1595: Functional genomic analysis of 18q21.1 locus identifies potential functional variants and genes for colorectal cancer [10.1158/1538-7445.AM2019-1595]

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Beyond genome‐wide significance: integrative approaches to the interpretation and extension of GWAS findings for alcohol use disorder [10.1111/adb.12591]

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Genetic association of DDIT3, RPL23A, SESN2 and NR4A1 genes with milk yield and composition in dairy cattle [10.1111/age.12750]

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Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density [10.1007/s00439-019-01971-4]

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The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. [10.1016/j.jhep.2018.09.028]

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Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding [10.1038/s41467-019-11412-5]

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Origins and clinical relevance of proteoforms in pediatric malignancies [10.1080/14789450.2019.1575206]

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Accurate inference of the full base-pairing structure of RNA by deep mutational scanning and covariation-induced deviation of activity [10.1101/677310]

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Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report [10.1186/s12879-019-3933-3]

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