Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R509Q
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TSC1

NM_000368.5:p.R509Q

Associated Papers

Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma.

Bi H et al.

Translational Andrology and Urology, 2020

33457247 (PubMed )
Supplement: tau-09-06-2751-supplementary.pdf

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1

Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

Nellist M et al.

European Journal of Human Genetics : Ejhg, 2009

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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."