ABCC7 p.Ile177Phe
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PMID: 20627915
[PubMed]
Derichs N et al: "Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data."
No.
Sentence
Comment
74
Three patients with a T5 allele had one CFTR mutation (G551D/-; F508del/-; I177F/-), but TGm status (TG11) if available was suggestive to be benign, providing further evidence for the classification 'CF unlikely`.
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ABCC7 p.Ile177Phe 20627915:74:75
status: NEW