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PSEN1 c.1139A>G ;(p.K380R)
Variant ID: 14-73683843-A-G
NM_000021.3(
PSEN1
):c.1139A>G;(p.K380R)
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:
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Npj Genomic Medicine
Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L
Publication Date: 2021-08-13
Variant appearance in text: PSEN1: 1139A>G; K380R
PubMed Link:
34389718
Variant Present in the following documents:
Main text
View BVdb publication page