Varaico: Literature-Extracted Genetic Variants

Gene:LOXL3
Variant:p.L14fs
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LOXL3

NM_032603.5:p.L14fs

Associated Papers

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2023

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.

Laurentino TS et al.

International Journal of Molecular Sciences, 2019

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Li J et al.

Molecular Vision, 2016

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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."