Varaico: Literature-Extracted Genetic Variants

Gene:GAST
Variant:p.Q49*
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GAST

NM_000805.5:p.Q49*

Associated Papers

Congenital isolated central hypothyroidism caused by a "hot spot" mutation in the thyrotropin-beta gene.

McDermott MT et al.

Thyroid : Official Journal of the American Thyroid Association, 2002

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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."