Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.M63K
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AP3B1

NM_003664.5:p.M63K

Associated Papers

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H et al.

Journal of Clinical Immunology, 2024

Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

Chen J et al.

Frontiers in Pediatrics, 2022

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

Nishikawa T et al.

The Journal of Dermatology, 2020

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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."