Associated Papers
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.
Meng F et al.
Journal of Medical Genetics, 2023
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN et al.
Plos One, 2022
36413568 (PubMed )
Supplement: pone.0268149.s014.docx
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.
de Oliveira Mann CC et al.
Scientific Reports, 2016
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