Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R611P
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TSC2

NM_000548.5:p.R611P

Associated Papers

An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2026

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Ye Z et al.

Human Mutation, 2022

Architecture of the Tuberous Sclerosis Protein Complex.

Ramlaul K et al.

Journal of Molecular Biology, 2021

33307091 (PubMed )
Supplement: mmc1.pdf

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1
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