Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.F617L
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TRAF7

NM_032271.3:p.F617L

Associated Papers

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Palma-Milla C et al.

Pediatric Neurology, 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

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."