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C9orf72 hexanucleotide repeat in Huntington-like patients: Systematic review and meta-analysis

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DataCite Commons2025-06-01 更新2024-07-28 收录
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https://figshare.com/articles/C9orf72_hexanucleotide_repeat_in_Huntington-like_patients_Systematic_review_and_meta-analysis/12057759/2
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The protocol was registered on the International Prospective Register of Systematic Reviews database (PROSPERO) (registration number: CRD42018105465). The search was carried out in Medline, Scopus, Web of Science, and Embase in April 2018. Observational studies reporting patients with HLD carrying the hexanucleotide repeat expansion in the <i>C9orf72</i> gene were selected and revised; this process was carried out in duplicate. The cutoff threshold for considering the hexanucleotide expansion as a pathogenic variant was equal or more than 30 G<sub>4</sub>C<sub>2</sub> repeats. The pooled frequency and 95% CI were calculated with random effect models.
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figshare
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2020-08-06
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