Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.E15V
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PTPN11

NM_002834.5:p.E15V

Associated Papers

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Marakhonov A et al.

Frontiers in Immunology, 2026

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S1

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
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