We identified 55 distinct disease-causing variants in SERPING1 gene, including 23 missense, 12 nonsense, 9 frameshift, 2 in-frame deletions, 3 splicing defects, 1 promoter substitution, and 5 large insertions/deletions
Sauzet, O., Carvajal, A., Escudero, A., Molokhia, M
XJ, LC, ZF, SX, YL, YZh, JL, CH, YZo, and LL analyzed the data
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