Varaico: Literature-Extracted Genetic Variants

Gene:TTF1
Variant:p.D876Y
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TTF1

NM_007344.4:p.D876Y

Associated Papers

Benign hereditary chorea: an update.

Inzelberg R et al.

Parkinsonism & Related Disorders, 2011

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L et al.

Molecular and Cellular Endocrinology, 2010

An outline of inherited disorders of the thyroid hormone generating system.

Knobel M et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Krude H et al.

The Journal of Clinical Investigation, 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."