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Article

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

Journal of inherited metabolic disease - 1 Mar 2024

Liang Huan, Zhan Xia, Wang Yu, Maegawa Gustavo H B, Zhang Huiwen

Abstract excerpt

Hundreds of NPC1 variants cause highly heterogeneous phenotypes. This study aims to explore the genotype-phenotype correlation of NPC1, especially for missense variants. In a well-characterized cohort, phenotypes are graded into three clinical forms: mild, intermediate, and severe. Missense residue structural location was stratified into three categories: surface, partially, and fully buried. The association of...

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PMID: 38131230
DOI: 10.1002/jimd.12705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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