Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L2
Variant:p.Y280*
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MAB21L2

NM_006439.5:p.Y280*

Associated Papers

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Seese SE et al.

Human Mutation, 2021

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Aubert-Mucca M et al.

European Journal of Human Genetics : Ejhg, 2021

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J et al.

Human Genetics, 2019

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N et al.

Clinical Genetics, 2018

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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."