Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P2650insFs
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USH2A

NM_206933.4:p.P2650insFs

Associated Papers

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.

Kelbsch C et al.

Investigative Ophthalmology & Visual Science, 2023

37578425 (PubMed )
Supplement: iovs-64-11-18_s001.pdf

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
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