Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.P80fs
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ADAMTSL4

NM_019032.6:p.P80fs

Associated Papers

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

Chen ZX et al.

Human Mutation, 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."