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Candidate variants detected by exome sequencing.

Name: Candidate variants detected by exome sequencing.
Published: 2016-03-18T23:31:44+00:00
License: https://creativecommons.org/licenses/by/4.0/
Keywords: dystonia pathophysiology, ATP 1A Mutation, missense variant, gene encoding, UBQLN, MRI, Exome sequencing, acid, α3 subunit, Clinical evaluation, Na, ataxia, G protein-regulated inducer, ubiquilin 4, ubiquitin pathway component, 21- year, cerebellar atrophy, cerebellar neurodegenerative phenotype, rapid-onset dystonia-parkinsonism, Adult Rapid-Onset Ataxia, ATP 1A, crystal structure, evidence, ATP 1A mutations, GPRIN 1, resonance imaging, RDP symptoms corroborates

dataset

posted on 2016-03-18, 23:31 authored by Kathleen J. Sweadner, Camilo Toro, Christopher T. Whitlow, Beverly M. Snively, Jared F. Cook, Laurie J. Ozelius, Thomas C. Markello, Allison Brashear

Candidate variants detected by exome sequencing.

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