Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.L411P
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TBX1

NM_001379200.1:p.L411P

Associated Papers

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

Tan TY et al.

Clinical Genetics, 2010

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Scambler PJ

Pediatric Cardiology, 2010

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

Torres-Juan L et al.

European Journal of Human Genetics : Ejhg, 2007

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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."