Homo sapiens ATP binding cassette subfamily A member 4 (ABCA4), transc - Nucleotide

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Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease. [Nucleic Acid Ther. 2024]
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.
Suárez-Herrera N, Garanto A, Collin RWJ. Nucleic Acid Ther. 2024 Apr; 34(2):73-82. Epub 2024 Mar 12.
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease. [Mol Vis. 2023]
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.
Cevik S, Wangtiraumnuay N, Van Schelvergem K, Tsukikawa M, Capasso J, Biswas SB, Bodt B, Levin AV, Biswas-Fiss E. Mol Vis. 2023; 29:217-233. Epub 2023 Oct 25.
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population. [Int J Mol Sci. 2023]
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
Kadyshev VV, Alekseeva EA, Strelnikov VV, Stepanova AA, Polyakov AV, Marakhonov AV, Kutsev SI, Zinchenko RA. Int J Mol Sci. 2023 Nov 12; 24(22). Epub 2023 Nov 12.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the ABCA4 gene (NM_000350.3).
RefSeq protein product
See the reference protein sequence for retinal-specific phospholipid-transporting ATPase ABCA4 isoform 2 (NP_001412253.1).

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Nucleotide