Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L330delFs
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TSC1

NM_000368.5:p.L330delFs

Associated Papers

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Togi S et al.

International Journal of Molecular Sciences, 2022

36232477 (PubMed )
Supplement: ijms-23-11175-s001.zip › Table_S1_TSC_Japan_dataset_2022_v3.xlsx › TSC_Japan_dataset

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

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.

Salussolia CL et al.

Annual Review of Genomics and Human Genetics, 2019

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.

Niida Y et al.

Journal of Human Genetics, 2013

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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."