What does it take to call it a pathogenic mutation?
Fleisher
Thomas A
TA
Notarangelo
Luigi D
LD
D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D001402:B-Lymphocytes / Q000378:metabolism; D005190:Family; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011505:Protein-Tyrosine Kinases / Q000235:genetics*
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase