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NPC1 c.1858G>A ;(p.D620N)
Variant ID: 18-21125013-C-T
NM_000271.4(
NPC1
):c.1858G>A;(p.D620N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mitochondria and Other Organelles in Neural Development and Their Potential as Therapeutic Targets in Neurodegenerative Diseases.
Frontiers In Neuroscience
Zhang, Shuyuan S; Zhao, Juan J; Quan, Zhenzhen Z; Li, Hui H; Qing, Hong H
Publication Date: 2022
Variant appearance in text: NPC1: D620N
PubMed Link:
35450015
Variant Present in the following documents:
Main text
fnins-16-853911.pdf
View BVdb publication page
Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases.
Molecular Neurobiology
Wang, Y Y; MacDonald, R G RG; Thinakaran, G G; Kar, S S
Publication Date: 2017-05
Variant appearance in text: NPC1: D620N
PubMed Link:
26993302
Variant Present in the following documents:
Main text
View BVdb publication page