Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.K134_E135Splc
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IGF1

NM_000618.5:p.K134_E135Splc

Associated Papers

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

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

de Graaff LC et al.

Clinical Endocrinology, 2009

GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.

Fofanova OV et al.

Bulletin of Experimental Biology and Medicine, 2006

A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.

Fofanova OV et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."