Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.V1189fs
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AP3D1

NM_001261826.3:p.V1189fs

Associated Papers

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

Ammann S et al.

Journal of Clinical Immunology, 2017

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Ammann S et al.

Blood, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."