Associated Papers
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-4.xlsx › SHP2-PTP_cSrc-KD_column
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
Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
Anderson K et al.
Congenital Heart Disease, 2019
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