Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.I282S
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PTPN11

NM_002834.5:p.I282S

Associated Papers

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Reynolds G et al.

International Journal of Molecular Sciences, 2025

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

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.

Kedar PS et al.

International Journal of Hematology, 2019

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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."