Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T635fs
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TSC1

NM_000368.5:p.T635fs

Associated Papers

Renal haemangioblastoma: a clinicopathologic and molecular characterization of 8 cases supporting the presence of recurrent MTOR pathway alterations.

Rodriguez Pena MDC et al.

Histopathology, 2025

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B et al.

The Lancet Regional Health. Europe, 2024

38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_3

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

Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1

Case Report: Immune and Genomic Characteristics Associated With Hyperprogression in a Patient With Metastatic Deficient Mismatch Repair Gastrointestinal Cancer Treated With Anti-PD-1 Antibody.

Zhou W et al.

Frontiers in Immunology, 2021

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