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
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A
The myostatin-induced E3 ubiquitin ligase RNF13 negatively regulates the proliferation of chicken myoblasts.
Zhang Q et al.
The Febs Journal, 2010
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
Zühlke CH et al.
European Journal of Human Genetics : Ejhg, 2004
Caspase-mediated parkin cleavage in apoptotic cell death.
Kahns S et al.
The Journal of Biological Chemistry, 2002
Select a paper to view details