Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.S1193L
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IGF1R

NM_000875.5:p.S1193L

Associated Papers

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Kessler L et al.

Clinical Genetics, 2025

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

Immune checkpoint blockade resistance-related B2M hotspot mutations in microsatellite-unstable colorectal carcinoma.

Yeon Yeon S et al.

Pathology, Research and Practice, 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."