Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.W637*
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TG

NM_003235.5:p.W637*

Associated Papers

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Li L et al.

Endocrine, 2023

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Mizokami T et al.

Internal Medicine (tokyo, Japan), 2019

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

Cangul H et al.

Endocrine, 2014

Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism.

Targovnik HM

Endocrine, 2014

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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."