Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1457insFs
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TSC2

NM_000548.5:p.R1457insFs

Associated Papers

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ et al.

European Journal of Human Genetics : Ejhg, 2015

25782670 (PubMed )
Supplement: ejhg201547x2.xls › mutation_data
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