Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R282*
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TG

NM_003235.5:p.R282*

Associated Papers

Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.

Machiavelli GA et al.

Clinical Endocrinology, 2010

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