JIMD Reports · 2017 · 24 citations · 28 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersMendelian Neurological DisordersMolecular NeurogeneticsNeurodevelopmental GeneticsNeurogenetic DisordersAtaxia SyndromesAutosomal Dominant AtaxiaCoenzyme Q10 DeficiencyExome SequencingGenetic Heterogeneity AnalysisHereditary AtaxiasSplice-site MutationsWhole-exome Sequencing Analysis
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The Human Genome Browser at UCSC
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Analysis of protein-coding genetic variation in 60,706 humans
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Detection of nonneutral substitution rates on mammalian phylogenies
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