Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L557delFs
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TSC1

NM_000368.5:p.L557delFs

Associated Papers

Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity.

Woodford MR et al.

Oncotarget, 2019

TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.

Guo Y et al.

The Journal of Pathology, 2013

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.

Knowles MA et al.

Biochemical Society Transactions, 2003

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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."