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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX4

Variant:p.F245delFs

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TBX4

NM_001321120.2:p.F245delFs

hg38:chr17:61479909 CT>C

Associated Papers

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Moresco G et al.

Genes & Genomics, 2025

39467966 (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."