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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN11

Variant:p.E447K

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PTPN11

NM_002834.5:p.E447K

hg38:chr12:112486589 G>A

Associated Papers

Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.

Zhu G et al.

Cell, 2020

33002410 (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."