Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.F375fs
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AP3B1

NM_003664.5:p.F375fs

Associated Papers

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

Shibata H et al.

Journal of Clinical Immunology, 2024

Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.

Matsuyuki K et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

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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."