Journal of Hepatology · 2017 · 137 citations · 72 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsBiliary Tract DiseaseBiliary Tract DisordersGenome SequencingLiver DiseaseVariant DetectionVariant InterpretationCholestasis PathophysiologyCommon Genetic VariantsGenetic Cholestatic DisordersGenetic Risk VariantsTransporter-mediated Cholestasis
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text
A map of human genome variation from population-scale sequencing