Gene · 1990 · 121 citations · 31 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPharmacogeneticsGenetic DisordersGermline Variant AnalysisMutation AnalysisMutation ScreeningRare Disease GeneticsRare Disease GenomicsCommon Genetic VariantsGaucher DiseaseGermline Mutation TestingRare Genetic VariantsSlc25a38 Gene Mutations
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The Metabolic Basis of Inherited Diseases
R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations