Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.E1356K
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IGF1R

NM_000875.5:p.E1356K

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Vimercati A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Identifying therapeutic drug targets using bidirectional effect genes.

Estrada K et al.

Nature Communications, 2021

33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6

Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study.

Perchard R et al.

Journal of the Endocrine Society, 2020

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s008.xlsx › Sheet1

Increasing knowledge in IGF1R defects: lessons from 35 new patients.

Giabicani E et al.

Journal of Medical Genetics, 2020

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."