Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.E444*
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HPS4

NM_022081.6:p.E444*

Associated Papers

Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.

Hu X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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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."