We did not identify a positive trend for the accumulation of such variants among MMS patients, since only 15% of them were carriers of putatively damaging RNF213 variants, localized to the N-terminal region with a frequency similar to that found in the Biogear dataset (11%; p = 0.58).
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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>.
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