Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K666Splc
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TSC1

NM_000368.5:p.K666Splc

Associated Papers

Retrospective nationwide survey of pediatric RDD in Japan: a high prevalence of mutations in the kinase pathway genes.

Asano T et al.

International Journal of Hematology, 2025

Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.

Fukushima T et al.

Clinical Lung Cancer, 2025

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

West HD et al.

Human Mutation, 2023

TSC loss is a clonal event in eosinophilic solid and cystic renal cell carcinoma: a multiregional tumor sampling study.

Munari E et al.

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

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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."