• Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Heterozygous (Coriell=GM08036).
  

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)

PubMed=16809669; DOI=10.1101/gr.5320706; PMCID=PMC1524869
Vivian G. Cheung, Warren John Ewens;
Heterozygous carriers of Nijmegen breakage syndrome have a distinct gene expression phenotype.
Genome Res. 16:973-979(2006)

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Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson, Ruth Epstein-Baak, Nikolina Babic, Maria P. Bettinotti, Arlene M. Buller-Burckle, Kenneth G. Butz, Matthew Campbell, Chris Civalier, Abdalla El-Badry ...Show all 29 authors... , Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason McKinney, Kasinathan Muralidharan, LeAnne Noll, Tara Sander, Junaid Shabbeer, Ching-Ying Huang Smith, Milhan Telatar, Lorraine H. Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang-Teck J. Yeo, Markus Zeller, Lisa V. Kalman; Show fewer authors
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Maria P. Bettinotti, Deborah Ferriola, Jamie L. Duke, Timothy L. Mosbruger, Nikolaos Tairis, Lawrence Jennings, Lisa V. Kalman, Dimitrios S. Monos;
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)