Varaico: Literature-Extracted Genetic Variants

Gene:AP1B1
Variant:p.R108W
Back to variants list

AP1B1

NM_001127.4:p.R108W

Associated Papers

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.

Vornweg J et al.

The British Journal of Dermatology, 2021

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."