Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q373*
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TSC2

NM_000548.5:p.Q373*

Associated Papers

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Luo C et al.

Orphanet Journal of Rare Diseases, 2022

35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc2

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.1.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC et al.

Bmc Medical Genetics, 2006

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O et al.

European Journal of Human Genetics : Ejhg, 2005

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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."