Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R24insFs
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ABCA4

NM_000350.3:p.R24insFs

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2
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