Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C536S
Back to variants list

USH2A

NM_206933.4:p.C536S

Associated Papers

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Stephenson KAJ et al.

Investigative Ophthalmology & Visual Science, 2023

37466950 (PubMed )
Supplement: iovs-64-10-23_s002.xlsx › Sheet1

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Reurink J et al.

International Journal of Molecular Sciences, 2021

34203967 (PubMed )
Supplement: ijms-22-06419-s001.zip › Supplementary_data › Table_S1.pdf

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Toms M et al.

Human Molecular Genetics, 2020

31998945 (PubMed )
Supplement: toms_et_al_supplementary_material_ddaa004.pdf

Development of a genotyping microarray for Usher syndrome.

Cremers FP et al.

Journal of Medical Genetics, 2007

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."