Published August 7, 2024
| Version v1
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VCF file of an individual with a variant in the RLIM gene
Authors/Creators
Description
The VCF file was obtained from whole-exome sequencing data of a DNA sample from an individual with a likely pathogenic variant in the RLIM gene (MIM 300379), which causes Tønne-Kalscheuer syndrome (MIM 300978).
- proband.vcf is a file of an affected individual (proband) with a variant in the RLIM gene.
Files
Files
(5.7 MB)
| Name | Size | Download all |
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md5:1b76122ce99500f4120f0c3557eac804
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5.7 MB | Download |