Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.Y26*
Back to variants list

IGF2

NM_000612.6:p.Y26*

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

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

Rockstroh D et al.

European Journal of Endocrinology, 2019

Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome.

Xia CL et al.

Frontiers in Genetics, 2019

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.

Tümer Z et al.

Human Mutation, 2018

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Abi Habib W et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."