Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.E232G
Back to variants list

AP4M1

NM_004722.4:p.E232G

Associated Papers

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).

Eberhardt K et al.

Stem Cell Research, 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."