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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006 Nov; 60(5):528-39.
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PubMed
subject areas
Adolescent
Adult
Aged
Child
Chromatography, High Pressure Liquid
Codon
DNA Mutational Analysis
Exons
Female
Genotype
Humans
Male
Middle Aged
Pedigree
Phenotype
Point Mutation
Severity of Illness Index
Tuberous Sclerosis
Tumor Suppressor Proteins
authors with profiles
David Joseph Kwiatkowski, M.D., Ph.D.