Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.G758fs
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ADAMTSL4

NM_019032.6:p.G758fs

Associated Papers

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Williams KM et al.

Clinical Genetics, 2025

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.

Wei H et al.

Journal of Medical Case Reports, 2023

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

Chen ZX et al.

Human Mutation, 2022

Genetic Testing in High-risk Spontaneous Coronary Artery Dissection-Searching for Clinical Utility Among Background Genetic Noise.

Giudicessi JR et al.

Jama Cardiology, 2022

ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.

Scanga HL et al.

American Journal of Medical Genetics. Part A, 2022

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.

Knight LSW et al.

Molecular Vision, 2022

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Collin GB et al.

Human Molecular Genetics, 2015

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

Chandra A et al.

Investigative Ophthalmology & Visual Science, 2012

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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."