Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1420_G1421delFs
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TSC2

NM_000548.5:p.S1420_G1421delFs

Associated Papers

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.

Zhou J et al.

Genes, 2021

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf

TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.

He J et al.

Genetic Testing and Molecular Biomarkers, 2020

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Zhang N et al.

Frontiers in Genetics, 2020

33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.

Zheng LY et al.

The Journal of Dermatology, 2018

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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."