Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.R84Q
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IGF1

NM_000618.5:p.R84Q

Associated Papers

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

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

Genetic landscape of autism spectrum disorder in Vietnamese children.

Tran KT et al.

Scientific Reports, 2020

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

Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.

Walenkamp MJ et al.

Endocrine Development, 2013

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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."