Associated Papers
Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
Brock DC et al.
Plos Genetics, 2026
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D et al.
Journal of Human Genetics, 2018
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