NPC1 c.2083C>T ;(p.L695=)

Variant ID: 18-21124355-G-A

NM_000271.4(NPC1):c.2083C>T;(p.L695=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: NPC1: L695L
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page