Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.K127*
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MAB21L2

NM_006439.5:p.K127*

Associated Papers

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.

Harding P et al.

The British Journal of Ophthalmology, 2023

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."