Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q49_G50Splc
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TBX5

NM_181486.4:p.Q49_G50Splc

Associated Papers

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Yamak A et al.

The Journal of Biological Chemistry, 2015

Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.

Guo Q et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2015

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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."