NPC1 c.3237T>G ;(p.F1079L)

Variant ID: 18-21116645-A-C

NM_000271.4(NPC1):c.3237T>G;(p.F1079L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

International Journal Of Neonatal Screening
Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R
Publication Date: 2022-06-28

Variant appearance in text: NPC1: F1079L
PubMed Link: 35892469
Variant Present in the following documents:
  • IJNS-08-00039.pdf
View BVdb publication page