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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 &quot;Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals&quot;<br> # Summary<br> This ZIP-file contains the supplementary files of our SMARCC2 study &quot;Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals&quot;.&nbsp;<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> ./ &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;(parent directory containing this README file and all subfolders)<br> ./Files/ &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;(contains Excel Suppl. File S2 and Suppl.File S3, and ZIP Suppl.File S4)</p> <p># Files and checksums<br> Algorithm &nbsp; &nbsp; &nbsp; Hash &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; Path<br> --------- &nbsp; &nbsp; &nbsp; ---- &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; ----<br> MD5 &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; 003A879AA75CF8B5C4E3E05F76C4EB4C &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; SMARCC2-Supplementary\Files\FileS2_cases_clinical-table.xlsx<br> MD5 &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; 73B4F9E83419A8404345101CAA4D2205 &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; SMARCC2-Supplementary\Files\FileS3_variants-and-domains.xlsx<br> MD5 &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; B0A12F36B4801EB6C4D21BA02B4270BB &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; 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

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