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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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