Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC et al.
The British Journal of Ophthalmology, 2024
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M et al.
American Journal of Ophthalmology, 2021
33309813 (PubMed )
Supplement: mmc1.pdf
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