Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.W358*
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TSC2

NM_000548.5:p.W358*

Associated Papers

Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center.

Okutucu G et al.

The Journal of Obstetrics and Gynaecology Research, 2024

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

Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

Agaram NP et al.

The American Journal of Surgical Pathology, 2015

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Tyburczy ME et al.

Human Molecular Genetics, 2014

Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates.

Dickson MA et al.

International Journal of Cancer, 2013

Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.

Li S et al.

Nature Communications, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."