Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1

Liang, H., Zhan, X., Wang, Y., Maegawa, G. H. B., & Zhang, H. (2023). Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1. Journal of Inherited Metabolic Disease, 47(2), 317–326. Portico. https://doi.org/10.1002/jimd.12705
Authors:
Huan Liang
Xia Zhan
Yu Wang
Gustavo H B Maegawa
Huiwen Zhang
Affiliated Authors:
Gustavo H B Maegawa
Columbia Affiliation:
Subjects:
Niemann-Pick Diseases (MeSH)
Niemann-Pick Disease, Type C (MeSH)
Author Keywords:
7-ketocholesterol
genotype–phenotype correlation
missense variants
niemann-pick disease type c1
residue depth
genotype-phenotype correlation
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Publication Type:
Article
Unique ID:
10.1002/jimd.12705
PMID:
38131230
DOI:
10.1002/jimd.12705
Journal:
Journal of Inherited Metabolic Disease
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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