Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.A83T
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RPGR

NM_001034853.2:p.A83T

Associated Papers

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Park HS et al.

Journal of Korean Medical Science, 2025

40296824 (PubMed )
Supplement: jkms-40-e54-s001.xls › causative_variants_by_patientno

[New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations].

Huchzermeyer C et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2021

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