Varaico: Literature-Extracted Genetic Variants

Gene:ABCA5
Variant:p.L43insFs
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ABCA5

NM_172232.4:p.L43insFs

Associated Papers

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM3_ESM.xlsx › snv_indel_maf_less20_Project_bc

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.

Raza R et al.

Clinical and Experimental Dermatology, 2022

Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia.

Du Z et al.

Pediatric Cardiology, 2020

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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."