Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R717*
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TG

NM_003235.5:p.R717*

Associated Papers

Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene

Kızılcan Çetin S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

Smith PJ et al.

Human Molecular Genetics, 2006

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX et al.

Nature Genetics, 2001

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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."