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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNAP

Variant:p.P19L

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DYNAP

NM_173629.3:p.P19L

hg38:chr18:54591338 C>T

Associated Papers

Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.

Lee YJ et al.

American Journal of Ophthalmology, 2025

39710161 (PubMed )

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