Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.T2A
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PTPN11

NM_002834.5:p.T2A

Associated Papers

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

Stuurman KE et al.

Journal of Medical Genetics, 2019

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

van Trier DC et al.

European Journal of Pediatrics, 2018

Atrioventricular canal defect in patients with RASopathies.

Digilio MC et al.

European Journal of Human Genetics : Ejhg, 2013

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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."