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NPC1 c.679T>A ;(p.C227S)
Variant ID: 18-21140397-A-T
NM_000271.4(
NPC1
):c.679T>A;(p.C227S)
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:
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
Journal Of Neurology
Sedel, Frédéric F; Chabrol, Brigitte B; Audoin, Bertrand B; Kaphan, Elsa E; Tranchant, Christine C; Burzykowski, Tomasz T; Tourbah, Ayman A; Vanier, Marie T MT; Galanaud, Damien D
Publication Date: 2016-05
Variant appearance in text: NPC1: C227S
PubMed Link:
26984608
Variant Present in the following documents:
Main text
415_2016_Article_8051.pdf
View BVdb publication page