Pediatric Nephrology · 2014 · 16 citations · 25 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersGenetic SusceptibilityMutation AnalysisMutation ScreeningRare Disease GeneticsGenetic Risk VariantsMutation
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An integrated map of genetic variation from 1,092 human genomes
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations
Lewis Y. Geer, Aron Marchler‐Bauer, Renata C. Geer et al. · Nucleic Acids Research · 2009 · 904 citations · Full text
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations
Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis
W. A. Gahl, Nava Bashan, Frank Tietze et al. · Science · 1982 · 364 citations