Varaico: Literature-Extracted Genetic Variants

Gene:TBP
Variant:p.I27V
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TBP

NM_003194.5:p.I27V

Associated Papers

A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.

Song M et al.

Blood Advances, 2025

40197981 (PubMed )
Supplement: BLOODA_ADV-2024-013695-mmc3.docx

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.

Dols-Icardo O et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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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."