Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.R69R
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IGF1

NM_000618.5:p.R69R

Associated Papers

Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

Fuqua JS et al.

Hormone Research in Paediatrics, 2012

Diagnosis and management of disorders of IGF-I synthesis and action.

Wit JM

Pediatric Endocrinology Reviews : Per, 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."