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NPC1 c.740del ;(p.C247Lfs*63)
Variant ID: 18-21140336-AC-A
NM_000271.4(
NPC1
):c.740del;(p.C247Lfs*63)
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:
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Iranian Journal Of Child Neurology
Hashemian, Somayyeh S; Eshraghi, Peyman P; Dilaver, Nafi N; Galehdari, Hamid H; Shalbafan, Bita B; Vakili, Rahim R; Ghaemi, Nosrat N; Ahangari, Najmeh N; Rezazadeh Varaghchi, Jamileh J; Zeighami, Jawaher J; Sedaghat, Alireza A; Aminzadeh, Majid M; Hamid, Mohammad M; Saberi, Alihossein A; Ashtari, Fereshteh F; Ghayoor Karimiani, Ehsan E; Shariati, Gholamreza G
Publication Date: 2019
Variant appearance in text: NPC1: 740delG
PubMed Link:
31037088
Variant Present in the following documents:
Main text
View BVdb publication page