Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D155V
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PTPN11

NM_002834.5:p.D155V

Associated Papers

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

Kontaridis MI et al.

The Journal of Biological Chemistry, 2006

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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."