Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.G60del1
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PTPN11

NM_002834.5:p.G60del1

Associated Papers

A preterm newborn-onset juvenile myelomonocytic leukemia-like myeloproliferation with PTPN11 mutation.

Yamamoto S et al.

Pediatric Blood & Cancer, 2023

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Athota JP et al.

Bmc Medical Genetics, 2020

A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.

Yoshida R et al.

American Journal of Medical Genetics. Part A, 2004

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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."