Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.L41R
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IGF2

NM_000612.6:p.L41R

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

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome.

Loid P et al.

Frontiers in Pediatrics, 2022

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