Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.R134_N135insFs
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IGF1R

NM_000875.5:p.R134_N135insFs

Associated Papers

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Dateki S et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."