Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R269_M270delFs
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USH2A

NM_206933.4:p.R269_M270delFs

Associated Papers

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela M et al.

Ophthalmology. Retina, 2024

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F et al.

Human Genetics, 2014

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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."