Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.D170G
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GHR

NM_000163.5:p.D170G

Associated Papers

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.

Shabbir RMK et al.

The Yale Journal of Biology and Medicine, 2023

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Li R et al.

Frontiers in Endocrinology, 2021

33912130 (PubMed )
Supplement: Table_1.docx

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

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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."