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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKACG

Variant:p.R46Q

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PRKACG

NM_002732.4:p.R46Q

hg38:chr9:69013956 C>T

Associated Papers

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.

Favier R et al.

British Journal of Haematology, 2015

25944497 (PubMed )

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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."