Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.A2652T
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SPEG

NM_005876.5:p.A2652T

Associated Papers

Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.

Ono R et al.

Cancer Science, 2021

33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1

A dominant vimentin variant causes a rare syndrome with premature aging.

Cogné B et al.

European Journal of Human Genetics : Ejhg, 2020

32066935 (PubMed )
Supplement: 41431_2020_583_MOESM3_ESM.xlsx › Feuil1

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation
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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."