Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach

T-box transcription factor 5 gene (TBX5) encodes the transcription factor TBX5, which plays a crucial role in the development of heart and upper limbs. Damaging single nucleotide variants in this gene alter the protein structure, disturb the functions of TBX5, and ultimately cause Holt-Oram Syndrome...

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Bibliographic Details
Main Authors: A.M.U.B. Mahfuz, Md. Arif Khan, Promita Deb, Sharmin Jahan Ansary, Rownak Jahan
Format: article
Language:EN
Published: Elsevier 2021
Subjects:
SNP
Online Access:https://doaj.org/article/fc252c2c71a2400e93bca9950f1e01a4
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