Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.K914N
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TSC2

NM_000548.5:p.K914N

Associated Papers

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
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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."