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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FSCN2

Variant:p.R482fs

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FSCN2

NM_001077182.3:p.R482fs

hg38:chr17:81536973 CGC>N

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )

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