Hermansky-Pudlak syndrome 4

Name
Hermansky-Pudlak syndrome 4
Ontological Reference
MONDO:0013556
Name
Hermansky-Pudlak syndrome 4
Ontological Reference
MONDO:0013556
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Clinicalvalidity on Gene-Disease Validity Definitive
Autosomal Recessive 05/27/2020 View report