Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.E26_V27Splc
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ADAMTSL4

NM_019032.6:p.E26_V27Splc

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

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.

Sharifi Y et al.

The British Journal of Ophthalmology, 2013

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

Chandra A et al.

Investigative Ophthalmology & Visual Science, 2012

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.

Greene VB et al.

Ophthalmic Genetics, 2010

Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities.

Chiang T et al.

Journal of Vitreoretinal Diseases, 0

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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."