Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.I170M
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MAB21L1

NM_005584.5:p.I170M

Associated Papers

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM et al.

Progress in Retinal and Eye Research, 2024

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.

Wang P et al.

Investigative Ophthalmology & Visual Science, 2023

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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."