Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L596P
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TSC2

NM_000548.5:p.L596P

Associated Papers

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

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

Langkau N et al.

European Journal of Pediatrics, 2002

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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."