Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.P1675R
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TSC2

NM_000548.5:p.P1675R

Associated Papers

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S4

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

Blasco-Pérez L et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Adib E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Architecture of the Tuberous Sclerosis Protein Complex.

Ramlaul K et al.

Journal of Molecular Biology, 2021

33307091 (PubMed )
Supplement: mmc1.pdf
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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."