Valente, EM;
Bhatia, KP;
(2018)
Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.
[Editorial comment].
Cell
, 172
(5)
pp. 889-891.
10.1016/j.cell.2018.02.022.
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Abstract
Despite revolutionary advances in sequencing approaches, many mendelian disorders have remained unexplained. In this issue of Cell, Aneichyk et al. combine genomic and cell-type-specific transcriptomic data to causally link a non-coding mutation in the ubiquitous TAF1 gene to X-linked dystonia-parkinsonism.
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