Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V30V
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ABCA4

NM_000350.3:p.V30V

Associated Papers

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

Mordà D et al.

Progress in Retinal and Eye Research, 2025

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Donato L et al.

Investigative Ophthalmology & Visual Science, 2018

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Battu R et al.

Biomed Research International, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."