Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P14T
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TBX5

NM_181486.4:p.P14T

Associated Papers

Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing.

Ye J et al.

Genomics, 2023

Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect.

Chen HX et al.

European Journal of Medical Genetics, 2017

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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."