Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.Q752*
Back to variants list

ADAMTSL4

NM_019032.6:p.Q752*

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

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

Williams KM et al.

Clinical Genetics, 2025

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Gustafson J et al.

Case Reports in Genetics, 2022

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

Overwater E et al.

European Journal of Medical Genetics, 2017

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."