• Mutation; HGNC; 1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11280).
  
• Mutation; HGNC; 1884; CFTR; Simple; c.579+1G>T (711+1G>T); ClinVar=VCV000038494; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11280).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
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(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V., Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A., Stenzel T.T.
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PubMed=19359498; DOI=10.2353/jmoldx.2009.080149
Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.
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