Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.N273S
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PTPN11

NM_002834.5:p.N273S

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

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

Narumi Y et al.

American Journal of Medical Genetics. Part A, 2007

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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."