Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.D221E
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IGF2

NM_001127598.3:p.D221E

Associated Papers

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

Guo R et al.

American Journal of Medical Genetics. Part A, 2023

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

Rotwein P

The Journal of Biological Chemistry, 2018

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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."