Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.K134_E135Splc
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IGF1

NM_000618.5:p.K134_E135Splc

Associated Papers

<italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

Joustra SD et al.

Hormone Research in Paediatrics, 2025

38952118 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.docx

Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.

García-Mato Á et al.

Genes, 2021

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

Batey L et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

Fuqua JS et al.

Hormone Research in Paediatrics, 2012

Diagnosis and management of disorders of IGF-I synthesis and action.

Wit JM

Pediatric Endocrinology Reviews : Per, 2011

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).

de Graaff LC et al.

Clinical Endocrinology, 2009

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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."