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Article

Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.

Cell - 22 Feb 2018

Valente Enza Maria, Bhatia Kailash P

Abstract excerpt

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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Source

Identifiers

PMID: 29474915
DOI: 10.1016/j.cell.2018.02.022

Genes

TAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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