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Best publication and presentation: SSIEM conference breaking news session
Vaz, Fred
(Recipient)
Genetic Metabolic Diseases
APH - Methodology
APH - Personalized Medicine
Amsterdam Gastroenterology Endocrinology Metabolism
Prize
›
Professional
Description
together with S. Ferdinandusse, SSIEM conference, Ferdinandusse, et al. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med 2021(23):740–750
Awarded date
1 Sept 2020
Fingerprint
Ether Lipids
100%
Autosomal Dominant
100%
Neurological Disorders
100%
FAR1
100%
Ether Lipid
100%
Autosomal Dominant Inheritance
100%
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