Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.W1194*
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TSC2

NM_000548.5:p.W1194*

Associated Papers

TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition.

Chiang S et al.

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

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Wang W et al.

Genetics and Molecular Biology, 2022

Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.

Wang X et al.

Frontiers in Medicine, 2022

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.

Manzanilla-Romero HH et al.

American Journal of Medical Genetics. Part A, 2021

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Zhang N et al.

Frontiers in Genetics, 2020

33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Giannikou K et al.

Plos Genetics, 2016

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