PMID: 19050722

McDevitt T, Barton D
When good CF tests go bad.
Eur J Hum Genet. 2009 Apr;17(4):403-5. Epub 2008 Dec 3., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 19050722:95:125
status: NEW
view ABCC7 p.Val520Phe details
 During validation studies, we observed genotype miscalls for two cases with compound genotypes, comprising p.Phe508del and p.Val520Phe in one case and p.Phe508del and p.Gln493X in the other. Login to comment