Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM et al.
Brain : a Journal of Neurology, 2019
31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
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