Global Variome shared LOVD

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Phenotype #0000330540 Individual ID 00440628 Associated disease XP Diagnosis/Initial - Diagnosis/Definite XPA Phenotype details see paper; ..., pink polypoid tumour posterior aspect right shoulder; 3y-freckling skin; sun expoure gives mild symptoms sun-burn with erythema and burning Inheritance Familial, autosomal recessive Age/Examination 61y (61 years) Age/Diagnosis - 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 2023-11-05 13:31:51 +01:00 (CET) Date last edited N/A

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