Varaico: Literature-Extracted Genetic Variants

Gene:DIO1
Variant:p.R132H
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DIO1

NM_001039715.3:p.R132H

Associated Papers

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.

Furman A et al.

Thyroid : Official Journal of the American Thyroid Association, 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."