Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.P59L
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GHR

NM_000163.5:p.P59L

Associated Papers

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

Spectrum of insulin-like growth factor deficiency.

Wit JM et al.

Endocrine Development, 2012

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.

Petkovic V et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 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."