Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.P530_E531insA
Back to variants list

AP4E1

NM_007347.5:p.P530_E531insA

Associated Papers

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Behne R et al.

Human Molecular Genetics, 2020

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."