Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.L189P
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RP2

NM_006915.3:p.L189P

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.

Fujinami K et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

Veltel S et al.

Expert Opinion on Therapeutic Targets, 2009

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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."