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Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
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Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 05; 94(6):905-14.
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PubMed
subject areas
Alleles
Central Nervous System
Centrioles
Child, Preschool
Cilia
Exons
Female
Humans
Infant
Kidney Diseases, Cystic
Male
Microtubule-Associated Proteins
Mutation
Orofaciodigital Syndromes
authors with profiles
Friedhelm Hildebrandt, M.D.