Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.I142V
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TCN2

NM_000355.4:p.I142V

Associated Papers

Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease.

Wang Y et al.

Genes & Diseases, 2024

38450100 (PubMed )
Supplement: mmc1.docx

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_2
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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."