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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROM1

Variant:p.P469T

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PROM1

NM_006017.3:p.P469T

hg38:chr4:16006587 G>T

Associated Papers

Clinical and Molecular Findings in PROM1-Associated Inherited Retinal Dystrophies.

D'Esposito F et al.

Genes, 2025

41300751 (PubMed )

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Sao Su S et al.

Ophthalmic Genetics, 2025

40101946 (PubMed )

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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."