Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.T601A
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TRAF7

NM_032271.3:p.T601A

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

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

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Chaisrisawadisuk S et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022

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

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ et al.

American Journal of Human Genetics, 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."