Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.
Li J et al.
Ophthalmic Genetics, 2024
External genitalia phenotypes of a Mab21l1-null mouse model for cerebellar, ocular, craniofacial, and genital (COFG) syndrome.
Promsut W et al.
Anatomical Record (hoboken, N.j. : 2007), 2024
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.
Meng F et al.
Journal of Medical Genetics, 2023
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
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