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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RP1L1

Variant:p.K1342_E1343insFs

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RP1L1

NM_178857.6:p.K1342_E1343insFs

hg38:chr8:10610071 C>CTG

Associated Papers

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.

Ibrahim M et al.

Ophthalmology Science, 2026

41732776 (PubMed )

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