Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.C71W
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IGF2

NM_000612.6:p.C71W

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

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Meyer R et al.

Orphanet Journal of Rare Diseases, 2021

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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."