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Results 1 - 7 of 7
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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61D355V mutation identified in fetus with severe cobblestone lissencephaly 749531
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61G94E mutation identified in fetus with severe cobblestone lissencephaly 749531
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61R266G mutation identified in fetus with severe cobblestone lissencephaly 749531
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61R340L missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity 751071
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61R340L mutation identified in fetus with severe cobblestone lissencephaly 749531
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61Y339C missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity 751071
Display the word mapDisplay the reaction diagram Show all sequences 2.4.2.61Y339C mutation identified in fetus with severe cobblestone lissencephaly 749531
Results 1 - 7 of 7
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download all results as CSV