An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database

An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database

Abstract Tuberous Sclerosis Complex (TSC) is caused by loss of function germline variants in the TSC1 or TSC2 tumor suppressor genes. Genetic testing for the detection of pathogenic variants in either TSC1 or TSC2 was implemented as a diagnostic criterion for TSC. However, TSC molecular diagnosis ca...

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Bibliographic Details
Main Authors: Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosset
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2024-02-01
Series:Genetics and Molecular Biology
Subjects:
ClinVar database
conflicting variants
TSC1
TSC2
variants of uncertain significance
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600126&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600126&lng=en&tlng=en

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