Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.Y595*
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ADAMTSL4

NM_019032.6:p.Y595*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Zonulopathies as Genetic Disorders of the Extracellular Matrix.

Chipeta C et al.

Genes, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

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

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin JA et al.

Human Mutation, 2010

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

Greene VB et al.

Ophthalmic Genetics, 2010

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ahram D et al.

American Journal of Human Genetics, 2009

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."