Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.L19L
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PTPN11

NM_002834.5:p.L19L

Associated Papers

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

Demir K et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 2016

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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."