Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.P525L
Back to variants list

F12

NM_000505.4:p.P525L

Associated Papers

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.

Shum C et al.

Stem Cell Reports, 2024

38242131 (PubMed )
Supplement: mmc2.pdf

Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition.

Stoklund Dittlau K et al.

Stem Cell Reports, 2021

33891869 (PubMed )
Supplement: mmc1.pdf

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

Naumann M et al.

Nature Communications, 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."