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-3.xlsx › SHP2-FL_cSrc-KD_column
Preliminary investigation of the diagnosis and gene function of deep learning PTPN11 gene mutation syndrome deafness.
Wu X et al.
Frontiers in Genetics, 2023
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Vaknin N et al.
Prenatal Diagnosis, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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