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
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.
Li SY et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Casey JP et al.
Journal of Inherited Metabolic Disease, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Casey JP et al.
Molecular Genetics and Metabolism, 2012
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