Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Q219P
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ETV6

NM_001987.5:p.Q219P

Associated Papers

Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

Hoehn T et al.

Journal of Tropical Pediatrics, 2016

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

Strnadová KA et al.

European Journal of Pediatrics, 2007

Prenatal diagnosis and treatment of congenital adrenal hyperplasia.

Nimkarn S et al.

Hormone Research, 2007

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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."