ABCC7 p.Met1Val

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PMID: 25910067 [PubMed] Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."
No. Sentence Comment
362 Allele legacy name Allele HGVS name Clinical classification CFTR2 M1V c.1A>G CF-PI CF-causing p.Met1Val P5L c.14C>T CF-PS,CFTR-RD nd p.Pro5Leu ex2,3del c.54-5940_273+10250del21080 CF-PI CF-causing ex2del c.54-1161_164+1603del2875 CF-PI nd W19X(TAG) c.56G>A CF-PI nd p.Trp19* [L24F;296+2T>G] c.
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ABCC7 p.Met1Val 25910067:362:96
status: NEW
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