Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.N1720_M1721Splc
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TSC2

NM_000548.5:p.N1720_M1721Splc

Associated Papers

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.

Papadopoulou A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Avgeris S et al.

Scientific Reports, 2017

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

Tsai TS et al.

Genetic Testing and Molecular Biomarkers, 2011

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS et al.

Human Genetics, 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."