Analysis of CFTR and SPINK1 variants in cases and controls.
收藏Figshare2015-12-02 更新2026-04-29 收录
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Of the 81 CFTR mutations tested in the cohort, 43 were observed at least once in cases or controls. Data shown for CFTR variant alone and, in cases, with a concurrent heterozygous variant in SPINK1 N34S. *1001+11C>T is in linkage disequilibrium with F508del, risk calculation includes only 1001+11C>T not in cis with F508del. Blank cells indicate undefined (e.g. x÷0) **IVS8 T5 is reported but causes CF only when in cis with either R117H or IVS8 TG12or13. Intronic mutations are reported in standard nomenclature “####+/−##N>N” except IVS8-T5 (1210-12T[5]).
创建时间：
2015-12-02
