Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Identification of lethal mutations in yeast threonyl-tRNA synthetase revealing critical residues in its human homolog.
Ruan ZR et al.
The Journal of Biological Chemistry, 2015
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