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Neurology Genetics
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February 2019; 5 (1) Clinical/Scientific NotesOpen Access

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

Holly Klepek, View ORCID ProfileStephen A. Goutman, View ORCID ProfileAdam Quick, View ORCID ProfileStephen J. Kolb, View ORCID ProfileJennifer Roggenbuck
First published January 7, 2019, DOI: https://doi.org/10.1212/NXG.0000000000000301
Holly Klepek
From the Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Stephen A. Goutman
From the Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Adam Quick
From the Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Stephen J. Kolb
From the Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Jennifer Roggenbuck
From the Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Citation
Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing
Holly Klepek, Stephen A. Goutman, Adam Quick, Stephen J. Kolb, Jennifer Roggenbuck
Neurol Genet Feb 2019, 5 (1) e301; DOI: 10.1212/NXG.0000000000000301

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