Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.D200_I201Splc
Back to variants list

C9orf72

NM_018325.5:p.D200_I201Splc

Associated Papers

Genetics of frontotemporal dementia in China.

Jiang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels.

Xiao S et al.

Acta Neuropathologica Communications, 2019

Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis.

Liu F et al.

Neurobiology of Aging, 2016

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."