Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.F52del1
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MAB21L2

NM_006439.5:p.F52del1

Associated Papers

Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.

Seese SE et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023

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."