Back to variants list
NPC1
NM_000271.5:p.S1197_V1198ins15
Associated Papers
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D et al.
Orphanet Journal of Rare Diseases, 2020
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
Select a paper to view details