Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.W1905Splc
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ABCA4

NM_000350.3:p.W1905Splc

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Piotter E et al.

Frontiers in Genetics, 2021

35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants

Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.

Müller PL et al.

Journal of Clinical Medicine, 2020

32751377 (PubMed )
Supplement: jcm-09-02428-s001.zip › Supplementary_Table_S1_New.pdf

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL et al.

Investigative Ophthalmology & Visual Science, 2017

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