VCF file of an individual with a variant in the RLIM gene
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https://zenodo.org/record/13256060
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资源简介：
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.
创建时间：
2024-08-07
