Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.P1257S
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IGF1R

NM_000875.5:p.P1257S

Associated Papers

The cytidine deaminase APOBEC3A regulates nucleolar function to promote cell growth and ribosome biogenesis.

McCool MA et al.

Plos Biology, 2024

38976757 (PubMed )
Supplement: pbio.3002718.s019.xlsx › Data_G_nuclear_variants

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.

Sun H et al.

Frontiers in Genetics, 2024

From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.

Pfäffle R et al.

Pediatric Endocrinology Reviews : Per, 2011

IGF1R mutations as cause of SGA.

Klammt J et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

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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."