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.




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
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