Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.M148K
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TBX1

NM_001379200.1:p.M148K

Associated Papers

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.

Funato N

Journal of Developmental Biology, 2022

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

Role of TBX1 in human del22q11.2 syndrome.

Yagi H et al.

Lancet (london, England), 2003

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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."