Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q613_A614Splc
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TSC2

NM_000548.5:p.Q613_A614Splc

Associated Papers

Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding.

D'Amico A et al.

Neuroradiology, 2021

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

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

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."