Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.Q397R
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HPS1

NM_000195.5:p.Q397R

Associated Papers

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.

Wang Q et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

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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."