Varaico: Literature-Extracted Genetic Variants

Gene:CTNNAL1
Variant:p.V141V
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CTNNAL1

NM_003798.4:p.V141V

Associated Papers

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

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf

Alpha-catulin maps to the familial dysautonomia region on 9q31.

Demacio PC et al.

Genome, 2001

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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."