Associated Papers
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › Clinical_Variants
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-6.xlsx › Clinical_Variants
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Clinical and genetic evaluation of children with short stature of unknown origin.
Zhao Q et al.
Bmc Medical Genomics, 2023
Mutation-Structure-Function Relationship Based Integrated Strategy Reveals the Potential Impact of Deleterious Missense Mutations in Autophagy Related Proteins on Hepatocellular Carcinoma (HCC): A Comprehensive Informatics Approach.
Awan FM et al.
International Journal of Molecular Sciences, 2017
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Walters-Sen LC et al.
Molecular Genetics & Genomic Medicine, 2015
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.
Bertelloni S et al.
Hormones (athens, Greece), 0
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