Varaico: Literature-Extracted Genetic Variants

Gene:IYD
Variant:p.R279C
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IYD

NM_203395.3:p.R279C

Associated Papers

Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.

Boros E et al.

European Journal of Endocrinology, 2024

Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).

Shareef R et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.

Bruellman RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."