Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP1
Variant:p.V44M
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IGFBP1

NM_000596.4:p.V44M

Associated Papers

Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.

García-Mato Á et al.

Genes, 2021

How ligand binds to the type 1 insulin-like growth factor receptor.

Xu Y et al.

Nature Communications, 2018

29483580 (PubMed )
Supplement: 41467_2018_3219_MOESM1_ESM.pdf

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

David A et al.

Endocrine Reviews, 2011

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

Netchine I et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.

Walenkamp MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."