ABCMdb

ABCC7 p.Ser1235Asn

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Publications

PMID: 25735457 [PubMed] Ramalho AS et al: "Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations."

No. Sentence Comment

225 The CFTR protein resulting from the "fish revertant" (c.3704G N A) which reverts the splicing of IVS22, is also correctly processed (Fig. 4B, lane 3), despite the fact that it has two missense mutations (p.Ile1234Val-c.3700A N G and p.Ser1235Asn-c.3704G N A). Login to comment