… protective genomic element insulating the highly mutagenic FGF14-SCA27B locus. …
variant upstream of the FGF14-SCA27B locus is associated with enhanced meiotic stability and …

… are genetic, either caused by conventional variants or due to tandem repeat expansions. …
Moreover, the instability of the GAA repeat during parental transmission depends on its size …

… We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with
… it for statistical analyses except for intergenerational instability and parental transmission. …

… -common flanking variant was observed in all Japanese GAA repeat alleles within normal
length, demonstrating its meiotic stability … We identified 14 patients with GAA-FGF14 SCA27B …

… Distinct 5'-flanking regions correlate with repeat stability. … of AAG repeats at the FGF14
locus, we developed a nanopore … Hence, in the context of FGF14/SCA27B, there is a potential …

… GAA repeat determines the meiotic expansion stability of the locus. The discovery of such …
variants in these and other genes into account, and 3) translation of the findings into improved …

… The screens for FGF14 repeat locus were performed as … of intergenerational instability and
parental transmission. … transmission during nine different maternal meiotic events. (f) The …

… of flanking regions surrounding the RE uncovered a common 17 bp deletion-insertion variant
that correlated with increased DNA stability … meiotic stability of the FGF14-SCA27B locus. …

… Meiotic instability typically results in an increased number of … , in a manner that depends
on the expanded locus, motif, and … with two specific primers flanking the region of interest. …

… We also genotyped the rs72665334 variant by Sanger sequencing in an independent …
common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus…