Associated Papers
The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease.
Yılmaz Aİ et al.
The Turkish Journal of Pediatrics, 2022
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M et al.
Plos One, 2013
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