Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.C38*
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IGF1

NM_000618.5:p.C38*

Associated Papers

Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.

Pantel J et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction.

Rosenbloom AL

Endocrine, 2000

Genetic heterogeneity in Laron syndrome.

Francke U et al.

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1993

Diverse growth hormone receptor gene mutations in Laron syndrome.

Berg MA et al.

American Journal of Human Genetics, 1993

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Amselem S et al.

Human Molecular Genetics, 1993

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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."