Varaico: Literature-Extracted Genetic Variants

Gene:UCP2
Variant:p.S47N
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UCP2

NM_003355.3:p.S47N

Associated Papers

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Laver TW et al.

Human Mutation, 2017

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

Ferrara CT et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.

De Leon DD et al.

Pediatric Diabetes, 2017

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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."