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Exact(21)
2 DSG2 mutations (p. S1026Q fsX12, p. G678R in two ARVC samples and 2 DSG2 mutations(p. E 896K, p. A858 V) in two SUD samples were identified, all the mutations were novel.
Three mutations were novel in prostate cancer.
Over 100 control DNAs from healthy donors were examined by double stranded sequencing for each mutation to insure that mutations were novel, associated with SCD, and unlikely to be rare polymorphisms.
Eleven mutations were novel (table 5).
Only three BRCA2 mutations were novel.
Fourteen of the mutations were novel.
Similar(39)
Three mutations are novel, including SOD1 p.G10A, SOD1 p.D83N, and OPTN p.L494W.
Eight of the 22 identified mutations are novel (Table 4).
Four of the mutations are novel nonsense mutations in the hMLH1 and hMSH2 genes.
Notably, many mutations are novel (13 of the 30 BRCA1 mutations and 24 of the 44 BRCA2).
Notably, 21 of the 28 MVK mutations are novel (Li and Zhang, 2014).
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