Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.Y108H
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IGF1

NM_000618.5:p.Y108H

Associated Papers

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

Giacomozzi C et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.

García-Mato Á et al.

Genes, 2021

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.

Domené S et al.

Cells, 2021

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Walenkamp MJE et al.

European Journal of Endocrinology, 2019

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Keselman AC et al.

European Journal of Endocrinology, 2019

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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."