Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.
Li J et al.
Ophthalmic Genetics, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN et al.
Plos One, 2022
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
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