Associated Papers
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ et al.
Plos Genetics, 2023
37812589 (PubMed )
Supplement: pgen.1010972.s017.xlsx › Table_S3
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33824501 (PubMed )
Supplement: NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf
Molecular defects that cause loss of polysialic acid in the complementation group 2A10.
Windfuhr M et al.
The Journal of Biological Chemistry, 2000
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