Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M1V
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ETV6

NM_001987.5:p.M1V

Associated Papers

Characterization of genetic variation in TLR8 in relation to allergic rhinitis.

Henmyr V et al.

Allergy, 2016

Lack of an effect of CYP3A4 and MDR1 gene polymorphisms on colchicine pharmacogenetics in the treatment of Familial Mediterranean fever.

Dogruer D et al.

Genetics and Molecular Research : Gmr, 2013

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Mani RS et al.

European Journal of Human Genetics : Ejhg, 2009

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Maia-Lopes S et al.

Molecular Vision, 2009

One single in-frame AUG codon is responsible for a diversity of subcellular localizations of glutaredoxin 2 in Saccharomyces cerevisiae.

Porras P et al.

The Journal of Biological Chemistry, 2006

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA et al.

Human Genetics, 2003

A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer.

Rostagno P et al.

Journal of Human Genetics, 2003

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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."