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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.L283P

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COL2A1

NM_001844.5:p.L283P

hg38:chr12:47994016 A>G

Associated Papers

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Brock DC et al.

Plos Genetics, 2026

41632798 (PubMed )

Supplement: pgen.1012027.s017.xlsx › S12_Table_-_VSX2_QVs

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