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PSEN1 c.835A>G ;(p.N279D)
Variant ID: 14-73664804-A-G
NM_000021.3(
PSEN1
):c.835A>G;(p.N279D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Globular Glial Mixed Four Repeat Tau and TDP-43 Proteinopathy with Motor Neuron Disease and Frontotemporal Dementia.
Brain Pathology (Zurich, Switzerland)
Takeuchi, Ryoko R; Toyoshima, Yasuko Y; Tada, Mari M; Tanaka, Hidetomo H; Shimizu, Hiroshi H; Shiga, Atsushi A; Miura, Takeshi T; Aoki, Kenju K; Aikawa, Akane A; Ishizawa, Shin S; Ikeuchi, Takeshi T; Nishizawa, Masatoyo M; Kakita, Akiyoshi A; Takahashi, Hitoshi H
Publication Date: 2016-01
Variant appearance in text: PSEN1: N279D
PubMed Link:
25787090
Variant Present in the following documents:
Main text
View BVdb publication page