Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.I205M
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GH1

NM_000515.5:p.I205M

Associated Papers

Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature.

Li R et al.

Endocrine, 2025

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

Kırkgöz T et al.

Archives of Endocrinology and Metabolism, 2023

Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome).

Karaoglan M

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2023

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

Wit JM et al.

Hormone Research in Paediatrics, 2021

The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.

Rotwein P

Endocrinology, 2017

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N et al.

Clinical Endocrinology, 2015

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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."