Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.H177P
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GH1

NM_000515.5:p.H177P

Associated Papers

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J et al.

Nature Communications, 2018

29844444 (PubMed )
Supplement: 41467_2018_4521_MOESM1_ESM.pdf

Rearrangement of a polar core provides a conserved mechanism for constitutive activation of class B G protein-coupled receptors.

Yin Y et al.

The Journal of Biological Chemistry, 2017

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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."