Associated Papers
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.
Chen Y et al.
Frontiers in Medicine, 2022
36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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