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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGF2BP1

Variant:p.R501W

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IGF2BP1

NM_006546.4:p.R501W

hg38:chr17:49045995 C>T

Associated Papers

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.

Alhaidan Y et al.

Scientific Reports, 2020

32034166 (PubMed )

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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."