Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.L177F
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AP3B1

NM_003664.5:p.L177F

Associated Papers

Neutrophil elastase in cyclic and severe congenital neutropenia.

Horwitz MS et al.

Blood, 2007

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.

Benson KF et al.

Nature Genetics, 2003

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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."