Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R289W
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PTPN11

NM_002834.5:p.R289W

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

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Brunet T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33173220 (PubMed )
Supplement: 41436_2020_993_MOESM1_ESM.pdf
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