NPC1 c.572A>C ;(p.E191A)

Variant ID: 18-21141383-T-G

NM_000271.4(NPC1):c.572A>C;(p.E191A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.

Cell
Kwon, Hyock Joo HJ; Abi-Mosleh, Lina L; Wang, Michael L ML; Deisenhofer, Johann J; Goldstein, Joseph L JL; Brown, Michael S MS; Infante, Rodney E RE
Publication Date: 2009-06-26

Variant appearance in text: NPC1: E191A
PubMed Link: 19563754
Variant Present in the following documents:
  • Main text
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