ABCC7 p.Lys951Gln
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 25443471
[PubMed]
Marion H et al: "The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes."
No.
Sentence
Comment
56
p.Gly622Asp was also detected in three fetuses who were studied because of hyperechogenic bowel and were found to carry a CFTR-RD variant such as c.2851A N G, p.Lys951Gln (K951E), c.1210-12T[5] and c.1584G N A (1716G N A) (Table 3).
X
ABCC7 p.Lys951Gln 25443471:56:161
status: NEW