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

2020-05-17

Abstract excerpt

T-box transcription factor 5 ( TBX5 ) gene encodes the transcription factor TBX5, which plays a crucial role in developing the heart and upper limbs. Damaging single nucleotide variants in this gene alters the protein structure, disturbs the functions of TBX5, and ultimately causes Holt-Oram Syndrome (HOS). By analyzing available single nucleotide polymorphism information in the dbSNP database, this study was des...

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Literature Corpus work: 6c7fb984-6113-527f-b50b-60cb716c50be
DOI: 10.1101/2020.05.16.099648

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

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