Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.V349A
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THRB

NM_001354712.2:p.V349A

Associated Papers

Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.

Liu Z et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.

Chao SC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003

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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."