Varaico: Literature-Extracted Genetic Variants

Gene:AP1B1
Variant:p.E14delFs
Back to variants list

AP1B1

NM_001127.4:p.E14delFs

Associated Papers

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Alsaif HS et al.

American Journal of Human Genetics, 2019

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."