Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M1T
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ETV6

NM_001987.5:p.M1T

Associated Papers

Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.

Orlova EM et al.

Hormone Research in Paediatrics, 2010

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

Maia-Lopes S et al.

Molecular Vision, 2009

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B et al.

Blood, 2008

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I et al.

American Journal of Human Genetics, 1998

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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."