Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs
Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.
Gok V et al.
Pediatric Hematology and Oncology, 2023
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 2020
32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M et al.
Molecular Autism, 2015
25969726 (PubMed )
Supplement: 13229_2015_17_MOESM2_ESM.xlsx › Table_S7
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