ABCC7 p.Tyr1092Ser
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PMID: 12938099
[PubMed]
Keyeux G et al: "CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs."
No.
Sentence
Comment
54
The frameshift mutation (c.1323_1324insA) located in exon 8 of the CFTR gene is detected in Bolivar in a compound heterozygous patient ([p.Y1092S]+[c.1323_1324insA]).
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ABCC7 p.Tyr1092Ser 12938099:54:139
status: NEW