NPC1 c.3308G>T ;(p.G1103V)

Variant ID: 18-21115602-C-A

NM_000271.4(NPC1):c.3308G>T;(p.G1103V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research
Sadananda, Singh N SN; Foo, Jia Nee JN; Toh, Meng Tiak MT; Cermakova, Lubomira L; Trigueros-Motos, Laia L; Chan, Teddy T; Liany, Herty H; Collins, Jennifer A JA; Gerami, Sima S; Singaraja, Roshni R RR; Hayden, Michael R MR; Francis, Gordon A GA; Frohlich, Jiri J; Khor, Chiea Chuen CC; Brunham, Liam R LR
Publication Date: 2015-10

Variant appearance in text: NPC1: 3308G>T
PubMed Link: 26255038
Variant Present in the following documents:
  • Main text
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