Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.Y595insFs
Back to variants list

ADAMTSL4

NM_019032.6:p.Y595insFs

Associated Papers

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

Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.

Zhou XM et al.

Acta Ophthalmologica, 2015

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."