Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R181C
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ETV6

NM_001987.5:p.R181C

Associated Papers

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS4_SUPPL.xlsx › Foglio1

Next-generation sequencing redefines the diagnosis of triple-negative myeloproliferative neoplasms.

Wu S et al.

Annals of Hematology, 2022

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_TSG
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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."