Associated Papers
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK et al.
The Lancet. Neurology, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38293014 (PubMed )
Supplement: media-1.pdf
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