• Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[100-117]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
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=18165276; DOI=10.2353/jmoldx.2008.070105; PMCID=PMC2175538
Wilson J.A., Pratt V.M., Phansalkar A., Muralidharan K., Highsmith W.E. Jr., Beck J.C., Bridgeman S., Courtney E.M., Epp L., Ferreira-Gonzalez A., Hjelm N.L., Holtegaard L.M., Jama M.A., Jakupciak J.P., Johnson M.A., Labrousse P., Lyon E., Prior T.W., Richards C.S., Richie K.L., Roa B.B., Rohlfs E.M., Sellers T., Sherman S.L., Siegrist K.A., Silverman L.M., Wiszniewska J., Kalman L.V.
Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J. Mol. Diagn. 10:2-12(2008)

PubMed=25776194; DOI=10.1016/j.jmoldx.2014.12.005
Lim G.X.-Y., Loo Y.-L., Mundhofir F.E.P., Cayami F.K., Faradz S.M.H., Rajan-Babu I.-S., Chong S.S., Koh Y.Y., Guan M.
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=33426406; DOI=10.1016/j.ncrna.2020.11.006; PMCID=PMC7781359
Dolskiy A.A., Yarushkin A.A., Grishchenko I.V., Lemskaya N.A., Pindyurin A.V., Boldyreva L.V., Pustylnyak V.O., Yudkin D.V.
miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis.
Noncoding RNA Res. 6:1-7(2021)