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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX5

Variant:p.Q302fs

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TBX5

NM_181486.4:p.Q302fs

hg38:chr12:114366243 CTG>N

Associated Papers

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Varela D et al.

Molecular Genetics and Genomics : Mgg, 2021

33866394 (PubMed )

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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."