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