Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E326K
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ETV6

NM_001987.5:p.E326K

Associated Papers

Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.

Omer N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Gan-Or Z et al.

Annals of Clinical and Translational Neurology, 2015

Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.

Rozenberg R et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2006

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Clain J et al.

Human Genetics, 2005

Glucocerebrosidase mutation T369M appears to be another polymorphism.

Walker JM et al.

Clinical 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."