Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.L204I
Back to variants list

PSEN2

NM_000447.3:p.L204I

Associated Papers

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_pathogenic_heterozygous
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."