Associated Papers
Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
Brock DC et al.
Plos Genetics, 2026
41632798 (PubMed )
Supplement: pgen.1012027.s016.xlsx › S11_Table_-_pathogenic_variants
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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