Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
33771153 (PubMed )
Supplement: 12920_2021_943_MOESM2_ESM.xls › Retained_Variants
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