NPC1 c.494C>T ;(p.A165V)

Variant ID: 18-21141461-G-A

NM_000271.4(NPC1):c.494C>T;(p.A165V)

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: 494C>T; A165V
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page