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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
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- Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
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Cognitive Trajectories in 4 Patients With Pediatric-Onset Multiple Sclerosis: Serial Evaluation Over a Decade.
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- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1577, doi. 10.1177/0883073812465010
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- Article