Associated Papers
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Select a paper to view details