Associated Papers
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST2
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s007.xlsx › Unweighted_ClinVar_Muts
Distribution, type, and origin of Parkin mutations: review and case studies.
Hedrich K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Caspase-mediated parkin cleavage in apoptotic cell death.
Kahns S et al.
The Journal of Biological Chemistry, 2002
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