Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.Q48fs
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MAB21L2

NM_006439.5:p.Q48fs

Associated Papers

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Ceroni F et al.

Nature Communications, 2024

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.

Seese SE et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Seese SE et al.

Human Mutation, 2021

Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development.

Gath N et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

Deml B et al.

Plos Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."