Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.K3fs
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KCNV2

NM_133497.4:p.K3fs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

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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