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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.P2194fs

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ABCA4

NM_000350.3:p.P2194fs

hg38:chr1:93998010 TGG>N

Associated Papers

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

Villafuerte-de la Cruz RA et al.

Bmc Ophthalmology, 2024

38347443 (PubMed )

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