Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.H272R
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OFD1

NM_003611.3:p.H272R

Associated Papers

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

D'Esposito F et al.

Medicina (kaunas, Lithuania), 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."