Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.G176R
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GHSR

NM_198407.2:p.G176R

Associated Papers

The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.

Toni L et al.

Hormone Research in Paediatrics, 2024

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_2.pdf

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

Wit JM et al.

Hormone Research in Paediatrics, 2021

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 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."