Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.E56D
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IGF1R

NM_000875.5:p.E56D

Associated Papers

Genetic causes of growth hormone insensitivity beyond GHR.

Hwa V et al.

Reviews in Endocrine & Metabolic Disorders, 2021

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.

Göpel E et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Diagnosis and management of disorders of IGF-I synthesis and action.

Wit JM

Pediatric Endocrinology Reviews : Per, 2011

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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."