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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPR3

Variant:p.R558C

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ITPR3

NM_002224.4:p.R558C

hg38:chr6:33667249 C>T

Associated Papers

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Hirvonen EAM et al.

Human Genomics, 2017

28427458 (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."