☆
4.4
Article
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Rate this paper
The primary rating indicates the level of overall quality for the paper. Secondary ratings independently reflect strengths or weaknesses of the paper.
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started