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
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P et al.
Investigative Ophthalmology & Visual Science, 2023
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Generation and characterization of pathogenic Mab21l2(R51C) mouse model.
Tsang SW et al.
Genesis (new York, N.y. : 2000), 2018
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.
Hakenberg J et al.
Bmc Bioinformatics, 2016
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Deml B et al.
Plos Genetics, 2015
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J et al.
American Journal of Human Genetics, 2014
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