Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.E281fs
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MAB21L1

NM_005584.5:p.E281fs

Associated Papers

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

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad A et al.

Journal of Medical Genetics, 2019

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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."