Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.R1353H
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IGF1R

NM_000875.5:p.R1353H

Associated Papers

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

Al Delbany D et al.

Cells, 2024

39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Bille A et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023

Dual MAPK Inhibition Is an Effective Therapeutic Strategy for a Subset of Class II BRAF Mutant Melanomas.

Dankner M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height.

Lin Y et al.

European Journal of Endocrinology, 2018

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

Insulin-like growth factor 1 receptor as a therapeutic target in ewing sarcoma: lack of consistent upregulation or recurrent mutation and a review of the clinical trial literature.

O'Neill A et al.

Sarcoma, 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."