Articles with "variants traf7" as a keyword



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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

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Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-0792-7

Abstract: Somatic variants in tumor necrosis factor receptor–associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define… read more here.

Keywords: spectrum transcriptomic; spectrum; phenotypic spectrum; transcriptomic profile ... See more keywords