Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L450delFs
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SLC26A4

NM_000441.2:p.L450delFs

Associated Papers

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Niu DM et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."