Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.S64*
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IGF2

NM_001127598.3:p.S64*

Associated Papers

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.

Ventresca S et al.

Frontiers in Endocrinology, 2024

Genetic causes of growth hormone insensitivity beyond GHR.

Hwa V et al.

Reviews in Endocrine & Metabolic Disorders, 2021

A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.

Rockstroh D et al.

European Journal of Endocrinology, 2019

The complex genetics of human insulin-like growth factor 2 are not reflected in public databases.

Rotwein P

The Journal of Biological Chemistry, 2018

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

Yamoto K et al.

Human Mutation, 2017

No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders.

Müller A et al.

American Journal of Medical Genetics. Part A, 2016

Paternally Inherited IGF2 Mutation and Growth Restriction.

Begemann M et al.

The New England Journal of Medicine, 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."