Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.Y418delFs
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TBX1

NM_080647.1:p.Y418delFs

Associated Papers

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Li D et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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

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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."