Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.D319N
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CACNA2D4

NM_172364.5:p.D319N

Associated Papers

Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.

Smirnov V et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.

Mordà D et al.

Progress in Retinal and Eye Research, 2025

Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient.

Cheng J et al.

3 Biotech, 2021

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