Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.M462R
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IGF1R

NM_000875.5:p.M462R

Associated Papers

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.

Jacobs A et al.

Cold Spring Harbor Molecular Case Studies, 2022

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.

Walenkamp MJE et al.

The Journal of Clinical Endocrinology and Metabolism, 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."