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©The Author(s) 2021.
World J Gastroenterol. Oct 21, 2021; 27(39): 6631-6646
Published online Oct 21, 2021. doi: 10.3748/wjg.v27.i39.6631
Published online Oct 21, 2021. doi: 10.3748/wjg.v27.i39.6631
Table 6 Characteristics of SLX4 gene mutations
| No. | Mutation type | dbSNP RS | Mutation site | Amino acid changes | Exon | Variant type |
| 1 | Missense | rs551385115 | c.5072A>G | p.N1691S | 14|15 | SNP |
| 2 | Splice-site variant | / | c.1683+1G>A | splice | 7|15 | SNP |
| 3 | Missense | rs774243118 | c.2990C>T | p.P997L | 12|15 | SNP |
| 18 | Missense | / | c.2425G>C | p.E809Q | 12|15 | SNP |
| 22 | Non-frameshift | / | c.568_570del | p.P190del | 3|15 | DEL |
- Citation: Gu GL, Zhang Z, Zhang YH, Yu PF, Dong ZW, Yang HR, Yuan Y. Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome. World J Gastroenterol 2021; 27(39): 6631-6646
- URL: https://www.wjgnet.com/1007-9327/full/v27/i39/6631.htm
- DOI: https://dx.doi.org/10.3748/wjg.v27.i39.6631