Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.N1720_M1721Splc
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TSC2

NM_000548.5:p.N1720_M1721Splc

Associated Papers

Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes.

Luinenburg MJ et al.

Frontiers in Cellular Neuroscience, 2023

38089143 (PubMed )
Supplement: Table_1.XLSX › ST1_patient_infor

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

West HD et al.

Human Mutation, 2023

40225170 (PubMed )
Supplement: 4899372.f1.zip › SupplTables_30523.pdf

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL et al.

American Journal of Human Genetics, 2001

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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."