Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L330F
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THRB

NM_001354712.2:p.L330F

Associated Papers

Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.

Pohlenz J et al.

Thyroid : Official Journal of the American Thyroid Association, 1997

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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."