Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Y62_Y63del1
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PTPN11

NM_002834.5:p.Y62_Y63del1

Associated Papers

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Carcavilla A et al.

Journal of Clinical Medicine, 2023

37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Olde Keizer RACM et al.

European Journal of Pediatrics, 2023

36997769 (PubMed )
Supplement: 431_2023_4909_MOESM4_ESM.xlsx › Supplementary_T3

Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.

Swarts JW et al.

American Journal of Medical Genetics. Part A, 2022

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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."