Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.L153_K156del4
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AP3B1

NM_003664.5:p.L153_K156del4

Associated Papers

Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.

Kurnik K et al.

Platelets, 2013

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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."