Varaico: Literature-Extracted Genetic Variants

Gene:OPN1MW
Variant:p.V171M
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OPN1MW

NM_000513.2:p.V171M

Associated Papers

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Haer-Wigman L et al.

Npj Genomic Medicine, 2022

36351915 (PubMed )
Supplement: 41525_2022_334_MOESM3_ESM.xlsx › Supplementary_Table_1

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Stingl K et al.

International Journal of Molecular Sciences, 2022

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