Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.F85Splc
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CLRN1

NM_174878.3:p.F85Splc

Associated Papers

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

Smirnov VM et al.

Investigative Ophthalmology & Visual Science, 2022

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Riera M et al.

Scientific Reports, 2017

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S et al.

Molecular Genetics & Genomic Medicine, 2016

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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."