Varaico: Literature-Extracted Genetic Variants

Gene:AP1B1
Variant:p.L223delFs
Back to variants list

AP1B1

NM_001127.4:p.L223delFs

Associated Papers

Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant.

Kaniganti T et al.

Molecular Genetics and Metabolism, 2025

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.

Wu R et al.

Frontiers in Neurology, 2025

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."