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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POC1B

Variant:p.L464P

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POC1B

NM_172240.3:p.L464P

hg38:chr12:89421199 A>G

Associated Papers

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.

Munir A et al.

Ophthalmic Genetics, 2025

39568138 (PubMed )

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