Varaico: Literature-Extracted Genetic Variants

Gene:TBP
Variant:p.Q77_Q82delFs
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TBP

NM_003194.5:p.Q77_Q82delFs

Associated Papers

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.

Lamilla J et al.

Diagnostics (basel, Switzerland), 2025

39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3
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