Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q785_R786Splc
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TSC2

NM_000548.5:p.Q785_R786Splc

Associated Papers

Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis.

Yan Z et al.

Histopathology, 2018

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: ejhg201547x1.xls › details
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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."