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GenomicsNovartis-Cattolica UFM collaboration Data Access Committee
Data Access Committee EGAC00001000512
EGAC00001000512 | EGA
Genomicsena-DATASET-NIBR-04-08-2016-14:28:22:169-118 - samples
Exome sequencing reads of two UFM individuals and their family members (totally 11 individuals) belonging to two different Fragile X families. Alignment files in BAM format are provided.
EGAD00001002276 | EGA
GenomicsExome-sequencing of two UFM individuals and their Fragile X family members.
Fragile X syndrome (FXS) is a monogenic neurodevelopmental disease often caused by a CGG triplet expansion in the 5’UTR of the FMR1 gene, which results in DNA methylation of the FMR1 promoter and its transcriptional silencing. Exceptional healthy individuals named "unmethylated full mutation (UFM)" ...
EGAS00001001737 | EGA
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