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
Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.
Huang YH et al.
Cancer Discovery, 2022
34429321 (PubMed )
Supplement: cd-21-0560_supplementary_table_1_suppst1.xlsx › Sheet1
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
Suzuki T et al.
Annals of Clinical and Translational Neurology, 2020
32530565 (PubMed )
Supplement: ACN3-7-1117-s002.pdf
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
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