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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RP2

Variant:p.E256del1

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RP2

NM_006915.3:p.E256del1

hg38:chrX:46854138 TGAG>T

Associated Papers

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M et al.

Ophthalmology, 2023

36423731 (PubMed )

Supplement: mmc6.pdf

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