Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L1138F
Back to variants list

ABCA4

NM_000350.3:p.L1138F

Associated Papers

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.

Nakamichi K et al.

Jci Insight, 2024

39264853 (PubMed )
Supplement: jciinsight-9-183902-s141.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."