Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.L1587fs
Back to variants list

COL18A1

NM_130444.3:p.L1587fs

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

Genetic background of high myopia in children.

Šenk U et al.

Plos One, 2024

Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.

Arepalli S et al.

Ophthalmic Genetics, 2022

Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome.

Alsulaiman SM et al.

Ophthalmology. Retina, 2020

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."