Associated Papers
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
Select a paper to view details