Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.N323_A326insFs
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TBX1

NM_005992.1:p.N323_A326insFs

Associated Papers

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures.

Hasegawa K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2018

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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."