NPC1 c.3427T>A ;(p.W1143R)

Variant ID: 18-21115483-A-T

NM_000271.4(NPC1):c.3427T>A;(p.W1143R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases
Héron, Bénédicte B; Valayannopoulos, Vassili V; Baruteau, Julien J; Chabrol, Brigitte B; Ogier, Hélène H; Latour, Philippe P; Dobbelaere, Dries D; Eyer, Didier D; Labarthe, François F; Maurey, Hélène H; Cuisset, Jean-Marie JM; de Villemeur, Thierry Billette TB; Sedel, Frédéric F; Vanier, Marie T MT
Publication Date: 2012-06-07

Variant appearance in text: NPC1: W1143R
PubMed Link: 22676771
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-36.pdf
View BVdb publication page