Varaico: Literature-Extracted Genetic Variants

Gene:CDCA8
Variant:p.S148F
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CDCA8

NM_001256875.2:p.S148F

Associated Papers

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.

Didier-Mathon H et al.

Frontiers in Endocrinology, 2023

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C et al.

European Journal of Endocrinology, 2018

Mutations in BOREALIN cause thyroid dysgenesis.

Carré A et al.

Human Molecular Genetics, 2017

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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."