Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.E375E
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IGF1R

NM_000875.5:p.E375E

Associated Papers

IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.

Yang L et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.

Janchevska A et al.

Open Access Macedonian Journal of Medical Sciences, 2018

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

IGF1R variants associated with isolated single suture craniosynostosis.

Cunningham ML et al.

American Journal of Medical Genetics. Part A, 2011

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.

Kruis T et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."