Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q758*
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TSC1

NM_000368.5:p.Q758*

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.

Sudarshan S et al.

Journal of Pediatric Genetics, 2021

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT et al.

Jama Pediatrics, 2017

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

28643795 (PubMed )
Supplement: ncomms15816-s3.xlsx › Supp_Data_2

Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.

Ismail NF et al.

The Journal of Molecular Diagnostics : Jmd, 2017

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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."