Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.M740_L741Splc
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TSC2

NM_000548.5:p.M740_L741Splc

Associated Papers

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Eser M et al.

Molecular Genetics and Genomics : Mgg, 2024

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

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

Avgeris S et al.

Scientific Reports, 2017

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