Associated Papers
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.
Venizelos A et al.
Endocrine-related Cancer, 2021
34647903 (PubMed )
Supplement: supplementary_table_4.xlsx › Targetable_in_NEC
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R et al.
European Journal of Human Genetics : Ejhg, 2009
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