Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q1392*
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TSC2

NM_000548.5:p.Q1392*

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

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Reyna-Fabián ME et al.

Scientific Reports, 2020

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.

Mills JD et al.

Scientific Reports, 2017

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

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