NPC1 c.3180T>C ;(p.L1060=)

Variant ID: 18-21116702-A-G

NM_000271.4(NPC1):c.3180T>C;(p.L1060=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Genome Research
Erwood, Steven S; Brewer, Reid A RA; Bily, Teija M I TMI; Maino, Eleonora E; Zhou, Liangchi L; Cohn, Ronald D RD; Ivakine, Evgueni A EA
Publication Date: 2019-12

Variant appearance in text: NPC1: L1060=
PubMed Link: 31754021
Variant Present in the following documents:
  • Main text
  • 2010.pdf
View BVdb publication page