Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.D45delFs
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RP1

NM_006269.2:p.D45delFs

Associated Papers

Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.

Kong MD et al.

International Journal of Molecular Sciences, 2025

40724865 (PubMed )
Supplement: ijms-26-06615-s001.zip › Supplemental_Table_S1.pdf

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.

Chen C et al.

Investigative Ophthalmology & Visual Science, 2024

38315492 (PubMed )
Supplement: iovs-65-2-9_s007.pdf
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