Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.V501G
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TPO

NM_001206744.2:p.V501G

Associated Papers

Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through In Silico Approach.

Begum MN et al.

Biomed Research International, 2019

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N et al.

European Journal of Pediatrics, 2015

Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.

Lee CC et al.

Bmj Open, 2015

25564141 (PubMed )
Supplement: bmjopen-2014-006121.draft_revisions.pdf

A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter.

Lee CC et al.

International Journal of Endocrinology, 2013

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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."