Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.K666_V667Splc
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TRAF7

NM_032271.3:p.K666_V667Splc

Associated Papers

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Pisan E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.

Mishra-Gorur K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.

Mishra-Gorur K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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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."