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Updated: Aug 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

Eliecer Coto1, Daniel Armenta, Raúl Espinosa

  • 1Genética Molecular, Hospital Central Asturias, Oviedo, Spain. eliecer.coto@sespa.princast.es

Movement Disorders : Official Journal of the Movement Disorder Society
|August 4, 2005
PubMed

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