Associated Papers
Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Yin EP et al.
Journal of Parkinson's Disease, 2025
EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Rietmann SJ et al.
Genes, 2024
39062633 (PubMed )
Supplement: genes-15-00854-s001.zip › Table_S5_Private_Variants.xlsx › private_hom.prot.chang.variants
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
Hossain MA et al.
Journal of Human Genetics, 2015
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