Global Variome shared LOVD

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Phenotype #0000060047 Individual ID 00080483 Associated disease XLP1 Phenotype details Symptoms: Classical XLP; fulminant infectious mononucleosis lymphoproliferative disorders coded in the ref [1] as Q58X thought the mutation at the nucleic acid level equals to R55X; Protein structure: Premature stop Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Gerard C.P. Schaafsma Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gerard C.P. Schaafsma Date created 2001-07-09 00:00:00 +02:00 (CEST) Date last edited 2001-07-09 00:00:00 +02:00 (CEST)

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