Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.T984I
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SZT2

NM_001365999.1:p.T984I

Associated Papers

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Tingaud-Sequeira A et al.

Journal of Medical Genetics, 2022

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.

Rengasamy Venugopalan S et al.

Orthodontics & Craniofacial Research, 2019

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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."