NPC1 c.3134T>C ;(p.L1045P)

Variant ID: 18-21116748-A-G

NM_000271.4(NPC1):c.3134T>C;(p.L1045P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine
Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T
Publication Date: 2016-02

Variant appearance in text: NPC1: L1045P
PubMed Link: 26981555
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Genetics Research
Rodríguez-Quiroga, Sergio Alejandro SA; Cordoba, Marta M; González-Morón, Dolores D; Medina, Nancy N; Vega, Patricia P; Dusefante, Cecilia Vazquez CV; Arakaki, Tomoko T; Garretto, Nélida Susana NS; Kauffman, Marcelo Andres MA
Publication Date: 2015

Variant appearance in text: NPC1: Leu1045Pro
PubMed Link: 25989649
Variant Present in the following documents:
  • Main text
View BVdb publication page