Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.W171*
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RP2

NM_006915.3:p.W171*

Associated Papers

Biopsy-proven granulomatous neuromyopathy in a case of Blau syndrome.

Toodayan N et al.

Journal of Neuropathology and Experimental Neurology, 2025

Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.

Rui X et al.

Scientific Reports, 2025

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

Zi F et al.

Bmc Medical Genomics, 2023

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Ji Y et al.

Current Eye Research, 2010

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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."