Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q257del1
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PTPN11

NM_002834.5:p.Q257del1

Associated Papers

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.

Martinelli S et al.

Human Mutation, 2020

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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."