MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.

Anum ShafiqueBeenish ArifMary Lynn ChuEllen MoranTooba HussainFrancisca Millan ZamoraElizabeth WohlerNara SobreiraChristine KleinKatja LohmannSadaf Naz

Published in: Journal of medical genetics (2022)

transcripts, raising the possibility to develop treatment by understanding the disease mechanism.

Keyphrases

single cell
copy number
gene expression
replacement therapy