Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1498Splc
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TSC2

NM_000548.5:p.S1498Splc

Associated Papers

"Oncocytoid Renal Cell Carcinomas After Neuroblastoma" Represent TSC -mutated Eosinophilic Solid and Cystic Renal Cell Carcinomas : Association With Prior Childhood Malignancy and Multifocality With Therapeutic Implications.

Argani P et al.

The American Journal of Surgical Pathology, 2023

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Chung CCY et al.

The Lancet Regional Health. Western Pacific, 2020

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ et al.

European Journal of Human Genetics : Ejhg, 2015

25782670 (PubMed )
Supplement: ejhg201547x1.xls › details
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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."