Varaico: Literature-Extracted Genetic Variants

Gene:NPEPL1
Variant:p.A434_D435Splc
Back to variants list

NPEPL1

NM_024663.4:p.A434_D435Splc

Associated Papers

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Berland S et al.

Cold Spring Harbor Molecular Case Studies, 2018

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."