Global Variome shared LOVD

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Phenotype #0000017269 Individual ID 00019468 Associated disease HPS Phenotype details see paper; ... Diagnosis/Initial Hermansky-Pudlak syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite HPS6 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name William (Bill) Oetting Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-10-18 16:53:22 +02:00 (CEST) Date last edited 2022-01-25 17:15:58 +01:00 (CET)

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