遇见数据集

Dataset for: [Functional impact of a novel kinesin family member 5A (KIF5A) variant causing late-onset hereditary spastic paraplegia type 10 (SPG10)]

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Zenodo2026-06-26 更新2026-06-28 收录
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资源简介:

This dataset supports the manuscript entitled "Functional impact of a novel kinesin family member 5A (KIF5A) variant causing late-onset hereditary spastic paraplegia type 10 (SPG10)." The dataset includes variant-level information for KIF5A c.691G>A (p.Val231Met), a variant filtering summary, and ATPase functional assay data used to evaluate the biochemical effect of the KIF5A V231M variant. The KIF5A variant has been submitted to ClinVar under submission ID SUB16296969; the ClinVar accession number is pending. The deposited files provide the variant-level and functional data directly supporting the findings reported in the manuscript. Raw whole-exome sequencing reads, aligned sequencing files, and genome-wide individual-level variant data are not included because they contain potentially identifiable human genomic information and are subject to participant privacy, informed consent, and institutional ethics restrictions.

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Zenodo
创建时间:
2026-06-26
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