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
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Efthymiou S et al.
American Journal of Medical Genetics. Part A, 2021
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