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Published March 24, 2023 | Version v1
Dataset Open

Data files for manuscript "Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals"

Creators

  • 1. Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany
  • 2. Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
  • 3. Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada

Description

# 2023-03-24
# Data files for manuscript "Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals"
# Summary
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". 
Suppl. File S2 contains comprehensive clinical data
Suppl. File S3 contains comprehensive genetic data
Suppl. File S4 contains files of the SMARCC2 N-terminal homology model

# Folder structure
./                                                (parent directory containing this README file and all subfolders)
./Files/                                        (contains Excel Suppl. File S2 and Suppl.File S3, and ZIP Suppl.File S4)

# Files and checksums
Algorithm       Hash                                                                   Path
---------       ----                                                                   ----
MD5             4D3FCC655A9B27A533BCE873601360A3                                       SMARCC2-Supplementary\README.txt
MD5             794D379C2658179475259C0619EB0EE9                                       SMARCC2-Supplementary\Files\FileS2_cases_clinical-table.xlsx
MD5             73B4F9E83419A8404345101CAA4D2205                                       SMARCC2-Supplementary\Files\FileS3_variants-and-domains.xlsx
MD5             B0A12F36B4801EB6C4D21BA02B4270BB                                       SMARCC2-Supplementary\Files\FileS4_SMARCC2 N-terminal homology model.zip

Files

SMARCC2-Supplementary.zip

Files (1.5 MB)

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md5:f78d9ea123e0e7fcfb31a56f2d1d9ec1
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