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PSEN1 c.161G>A ;(p.R54Q)
Variant ID: 14-73637578-G-A
NM_000021.3(
PSEN1
):c.161G>A;(p.R54Q)
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:
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Investigative Ophthalmology & Visual Science
Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2022-05-02
Variant appearance in text: PS1: 161G>A
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.pdf
View BVdb publication page