• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[23]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

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=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
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=25776194; DOI=10.1016/j.jmoldx.2014.12.005
Grace X.-Y. Lim, Yu-Ling Loo, Farmaditya E.P. Mundhofir, Ferdy K. Cayami, Sultana M.H. Faradz, Indhu-Shree Rajan-Babu, Samuel S. Chong, Yvonne Y. Koh, Ming Guan;
Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1.
J. Mol. Diagn. 17:302-314(2015)

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)

PubMed=33426406; DOI=10.1016/j.ncrna.2020.11.006; PMCID=PMC7781359
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey Valeryevich Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin;
miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis.
Noncoding RNA Res. 6:1-7(2021)