Phenotypes associated with E831X mutations.
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https://figshare.com/articles/dataset/_Phenotypes_associated_with_E831X_mutations_/497391
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Abbreviations: CBAVD, congenital bilateral absence of the vas deferens; MI, meconium ileus; PI, pancreatic insufficiency; PS, pancreatic sufficiency.
*Sweat test: normal values <30 mmol/l and border line values 30–60 mmol/l.
创建时间：
2010-10-07
