Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.D166_D167insFs
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TBX1

NM_080647.1:p.D166_D167insFs

Associated Papers

Familial hypertrophic cardiomyopathy associated with TBX1 variation.

Zhang J et al.

European Journal of Medical Genetics, 2025

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Mantravadi V et al.

Frontiers in Immunology, 2021

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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."