HUGO ID Detailed Result 14537


HUGO ID 14537
Symbol NPC2
Name Niemann-Pick disease, type C2
#Occurrence 2
#Paper 2

 


PMID Match String Actual String Score Flanking text Edited by Edit
18414597NPC2NPC21.4C is due to mutations in either the NPC1 or NPC2 genes resulting in defective cholesterol transport and cholesterol accumulation 
18751914NPC2NPC21.4C is due to mutations in either the NPC1 or NPC2 genes resulting in defective cholesterol transport and cholesterol accumulation