Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q446_I447Splc
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TPO

NM_001206744.2:p.Q446_I447Splc

Associated Papers

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Muskett JA et al.

The Laryngoscope, 2016

A systematic review of genetic studies of thyroid disorders in Taiwan.

Huang CJ et al.

Journal of the Chinese Medical Association : Jcma, 2015

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Iwasaki S et al.

Journal of Human Genetics, 2006

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

Prasad S et al.

American Journal of Medical Genetics. Part A, 2004

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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."