European Journal of Human Genetics · 2018 · 64 citations · 22 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsReproductive GeneticsDisorders Of Sex DevelopmentGenetic DisordersGonadal Sex DifferentiationMendelian DisordersSex DifferentiationSexual Differentiation46, Xx Gonadal Dysgenesis46, Xy Gonadal DysgenesisDifferentiation PhenotypesDisorders Of Sexual DifferentiationNr5a1 MutationsSex Differentiation PathwaysSex Hormone Synthesis DefectsSex-linked Disease Inheritance
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dbSNP: the NCBI database of genetic variation
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A general framework for estimating the relative pathogenicity of human genetic variants
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