Associated Papers
Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.
Jin JY et al.
Frontiers in Cell and Developmental Biology, 2025
40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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