Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V256_L257Splc
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ABCA4

NM_000350.3:p.V256_L257Splc

Associated Papers

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Kaltak M et al.

Journal of Translational Medicine, 2023

37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Runhart EH et al.

Jama Ophthalmology, 2020

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

29844330 (PubMed )
Supplement: 41598_2018_26524_MOESM1_ESM.docx
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