• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[935]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194; PubMed=32656337).
  

PubMed=1672039; DOI=10.1038/349624a0
Vincent A., Heitz D., Petit C., Kretz C., Oberle I., Mandel J.-L.
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Nature 349:624-626(1991)

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=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=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000
Ruiz Buendia G.A., Leleu M., Marzetta F., Vanzan L., Tan J.Y., Ythier V., Randall E.L., Marques A.C., Baubec T., Murr R., Xenarios I., Dion V.
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion.
Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020)