Global Variome shared LOVD

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Phenotype #0000326433 Individual ID 00436253 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPE Phenotype details sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75 Inheritance Familial, autosomal recessive Age/Examination 49y (49 years) Age/Diagnosis 46y Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-31 14:14:49 +02:00 (CEST) Date last edited N/A

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