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

Novel mosaic TRAF7 likely pathogenic variant in an African American family.

Colleran JA et al.

American Journal of Medical Genetics. Part A, 2023

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."