Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.Q1250*
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IGF1R

NM_000875.5:p.Q1250*

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.

Kawashima-Sonoyama Y et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).

Janchevska A et al.

Open Access Macedonian Journal of Medical Sciences, 2018

IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.

Yang L et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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."