Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M1_S2insFs
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ETV6

NM_001987.5:p.M1_S2insFs

Associated Papers

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Bastida JM et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

Babaei M et al.

Human Genetics, 2005

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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."