Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Y704C
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TSC1

NM_000368.5:p.Y704C

Associated Papers

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis.

Sakamoto H et al.

Journal of Clinical Pathology, 2018

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