Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

Mov Disord

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Published: January 2023

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092631	PMC
http://dx.doi.org/10.1002/mds.29250	DOI Listing

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