Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.I1266I
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IGF1R

NM_000875.5:p.I1266I

Associated Papers

Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

Çelik NB et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.

Fujimoto M et al.

Clinical Endocrinology, 2015

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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."