NPC1 c.3008T>G ;(p.L1003R)

Variant ID: 18-21118539-A-C

NM_000271.4(NPC1):c.3008T>G;(p.L1003R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences
Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P
Publication Date: 2020-07-17

Variant appearance in text: NPC1: 3008T>G; L1003R
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page