Published March 17, 2022
| Version v1
Dataset
Open
dataset related to article "Clinical, molecular and glycophenotype insights in SLC39A8-CDG"
Authors/Creators
- 1. Fondazione IRCCS Istituto Neurologico Carlo Besta
Description
NGS data (.vcf; .bam; .bam.bai; .csv; .fastq) of patient analysed and sanger sequencing (.abi) for confirm the mutation and segregation in the family (mather, father and sibling)
Files
SLC39A8mutations.zip
Files
(198.1 MB)
| Name | Size | Download all |
|---|---|---|
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md5:936d9da970a0482122514a6a04910179
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198.1 MB | Preview Download |
Additional details
Related works
- Is supplement to
- Journal article: 10.1186/s13023-021-01941-y (DOI)