Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations.
Sun W et al.
Nature Communications, 2013
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Bénit P et al.
Human Mutation, 2000
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Bénit P et al.
Human Mutation, 1999
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