Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D262N
Back to variants list

ABCA4

NM_000350.3:p.D262N

Associated Papers

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.

Ravaglia S et al.

Frontiers in Cell and Developmental Biology, 2022

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S et al.

European Journal of Human Genetics : Ejhg, 2005

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."