Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.G4Splc
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GH1

NM_000515.5:p.G4Splc

Associated Papers

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S et al.

Frontiers in Endocrinology, 2023

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

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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."