Data files for manuscript "Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals"
<p># 2023-06-28<br> # Data files for manuscript "Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals"<br> # Summary<br> This ZIP-file contains the supplementary files of our SMARCC2 study "Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals". <br> Suppl. File S2 contains comprehensive clinical data<br> Suppl. File S3 contains comprehensive genetic data<br> Suppl. File S4 contains files of the SMARCC2 N-terminal homology model</p> <p># Folder structure<br> ./ (parent directory containing this README file and all subfolders)<br> ./Files/ (contains Excel Suppl. File S2 and Suppl.File S3, and ZIP Suppl.File S4)</p> <p># Files and checksums<br> Algorithm Hash Path<br> --------- ---- ----<br> MD5 003A879AA75CF8B5C4E3E05F76C4EB4C SMARCC2-Supplementary\Files\FileS2_cases_clinical-table.xlsx<br> MD5 73B4F9E83419A8404345101CAA4D2205 SMARCC2-Supplementary\Files\FileS3_variants-and-domains.xlsx<br> MD5 B0A12F36B4801EB6C4D21BA02B4270BB SMARCC2-Supplementary\Files\FileS4_SMARCC2 N-terminal homology model.zip</p>
ShareScore
40/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 8
- Harmonization
- 4
- Access
- 16
- Reuse readiness
- 8
- Engagement
- 4
Topics
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