Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S5
Variant:p.C117insFs
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BLOC1S5

NM_201280.3:p.C117insFs

Associated Papers

The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.

Liu T et al.

The Journal of Dermatology, 2021

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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."