Associated Papers
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C et al.
Human Molecular Genetics, 2018
29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
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