Global Variome shared LOVD

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Phenotype #0000326414 Individual ID 00436234 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPC Phenotype details sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15 Inheritance Familial, autosomal recessive Age/Examination 39y (39 years) Age/Diagnosis 6y 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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