Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.A100V
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TSC2

NM_000548.5:p.A100V

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS15_het

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

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD
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