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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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Detalles Bibliográficos
Autores principales: Mahfuz, A.M.U.B., Khan, Md. Arif, Deb, Promita, Ansary, Sharmin Jahan, Jahan, Rownak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8646135/
https://www.ncbi.nlm.nih.gov/pubmed/34917776
http://dx.doi.org/10.1016/j.bbrep.2021.101179