Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A6D
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ETV6

NM_001987.5:p.A6D

Associated Papers

GH receptor d3 polymorphism in Dutch patients with MPHD and IGHD born small or appropriate for gestational age.

de Graaff LC et al.

Clinical Endocrinology, 2008

Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome.

Binder G et al.

Clinical Endocrinology, 2008

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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."