Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.A72A
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PTPN11

NM_002834.5:p.A72A

Associated Papers

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.

Eboreime J et al.

Human Mutation, 2022

Childhood Myeloid Neoplasms With PTPN11 Mutations in Brazil.

Dos Santos-Bueno FV et al.

Clinical Lymphoma, Myeloma & Leukemia, 2020

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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."