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NPC1 c.1553+483G>A
Variant ID: 18-21134239-C-T
NM_000271.4(
NPC1
):c.1553+483G>A
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:
Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
Neuroscience Letters
Erickson, Robert P RP; Larson-Thomé, Katherine K; Weberg, Lyndon L; Szybinska, Aleksandra A; Mossakowska, Malgorzata M; Styczynska, Maria M; Barcikowska, Maria M; Kuznicki, Jacek J
Publication Date: 2008-12-12
Variant appearance in text: rs1631685
PubMed Link:
18834923
Variant Present in the following documents:
Main text
View BVdb publication page