Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.P4L
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BLOC1S6

NM_012388.4:p.P4L

Associated Papers

Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.

Corral J et al.

Haematologica, 2004

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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."