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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBBP5

Variant:p.V520E

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RBBP5

NM_005057.4:p.V520E

hg38:chr1:205094902 A>T

Associated Papers

DPY30 acts as an ASH2L-specific stabilizer to stimulate the enzyme activity of MLL family methyltransferases on different substrates.

Zhao L et al.

Iscience, 2022

36065180 (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."