Associated Papers
Recessive SMC5 Variants in a Family with Near-Tetraploidy/Mosaic Variegated Aneuploidy.
Yang Y et al.
Diagnostics (basel, Switzerland), 2025
In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.
Zhu W et al.
Clinical and Translational Medicine, 2023
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ et al.
Nature Communications, 2022
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