ABCC7 p.Lys1080Ile
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PMID: 24777605
[PubMed]
Lee S et al: "Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools."
No.
Sentence
Comment
300
Table 3 lists the findings: K14X (stop), K68E, K68N, K710X (stop), K1080Q, K1080R, and K1080I mutations already exist in human genes.
X
ABCC7 p.Lys1080Ile 24777605:300:87
status: NEW