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<< < Results 81 - 81 of 81
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.18Y57H/R515W occuring mutation involved in progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, the mutant shows a highly reduced aminoacylation activity, heterozygous mutations 743985
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