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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX1

Variant:p.R205Splc

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RUNX1

NM_001754.5:p.R205Splc

hg38:chr21:34859469 C>T

Associated Papers

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM et al.

Haematologica, 2018

28983057 (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."