Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R367P
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TSC2

NM_000548.5:p.R367P

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_S2

Architecture of the Tuberous Sclerosis Protein Complex.

Ramlaul K et al.

Journal of Molecular Biology, 2021

33307091 (PubMed )
Supplement: mmc1.pdf

Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

Zech R et al.

The Journal of Biological Chemistry, 2016

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