ABCC7 p.Tyr1307*
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PMID: 20667826
[PubMed]
Thibodeau PH et al: "The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis."
No.
Sentence
Comment
295
Consistent with these data, the R555G mutation has previously been identified in a heterozygous CF patient (R555G/Y1307X).
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ABCC7 p.Tyr1307* 20667826:295:114
status: NEW