Protein mab-21-like 2
Definition:
Required for several aspects of embryonic development including normal development of the eye.
References:
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[1]. Brett Deml, et al. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. PLoS Genet. 2015 Feb 26;11(2):e1005002. [Content Brief]
[2]. Joe Rainger, et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 5;94(6):915-23. [Content Brief]
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