Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A663T
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TPO

NM_001206744.2:p.A663T

Associated Papers

Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

Gutnisky VJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

[Pendred syndrome and nonsyndromic related deafness: a same entity?].

Wemeau JL et al.

Bulletin De L'academie Nationale De Medecine, 0

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