• Mutation; HGNC; HGNC:1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07441).
  
• Mutation; HGNC; HGNC:1884; CFTR; Simple; c.2988+1G>A (3120+1G>A); ClinVar=VCV000007224; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07441).
  

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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Clin. Chem. 51:2156-2159(2005)

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335
Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene M. Buller-Burckle, Lisa DiAntonio, William Edward Highsmith Jr., Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M. Rohlfs, Jack C. Tarleton, Lorraine Hellenga Toji ...Show all 13 authors... , Shannon D. Barker, Lisa V. Kalman; Show fewer authors
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