Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.P393delFs
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TBX1

NM_080647.1:p.P393delFs

Associated Papers

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.

Stoller JZ et al.

Human Molecular Genetics, 2005

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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."