• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[100-104]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

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)