ABCC7 p.His609*
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PMID: 14685937
[PubMed]
Groman JD et al: "Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign."
No.
Sentence
Comment
38
5T was confirmed by use of pedigree analysis to be in trans with R764X, Y563X, and H609X and was inferred as in trans for the remaining mutations, since these mutations have never been found to be in linkage disequilibrium with 5T in previous population sampling.
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ABCC7 p.His609* 14685937:38:83
status: NEW