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 › ST1
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
Muñoz E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2002
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