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.




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
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