Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.F281_R282insFs
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RP2

NM_006915.3:p.F281_R282insFs

Associated Papers

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.

Mansouri N et al.

Iranian Journal of Medical Sciences, 2023

Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement.

Horner F et al.

Bmj Case Reports, 2019

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