Varaico: Literature-Extracted Genetic Variants

Gene:LOXL3
Variant:p.C676Y
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LOXL3

NM_032603.5:p.C676Y

Associated Papers

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Sánchez CMD et al.

Clinical Genetics, 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

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

Autosomal Recessive Stickler Syndrome.

Nixon TRW et al.

Genes, 2022

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

Targeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss.

Liu Z et al.

Frontiers in Cell and Developmental Biology, 2021

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

Laurentino TS et al.

International Journal of Molecular Sciences, 2019

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Chan TK et al.

Clinical Genetics, 2019

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

LOXL3-sv2, a novel variant of human lysyl oxidase-like 3 (LOXL3), functions as an amine oxidase.

Jeong C et al.

International Journal of Molecular Medicine, 2017

Loss of Lysyl Oxidase-like 3 Attenuates Embryonic Lung Development in Mice.

Zhang J et al.

Scientific Reports, 2016

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

Li J et al.

Molecular Vision, 2016

Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

Zhang J et al.

Human Molecular Genetics, 2015

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Alzahrani F et al.

Human Genetics, 2015

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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."