Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E76K
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NF1

NM_001042492.3:p.E76K

Associated Papers

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.

López-Rivera JA et al.

Brain : a Journal of Neurology, 2023

Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.

Sheng L et al.

Open Medicine (warsaw, Poland), 2023

Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia.

Kaburagi T et al.

Haematologica, 2022

Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Xu B et al.

Cold Spring Harbor Molecular Case Studies, 2020

33008833 (PubMed )
Supplement: supp_mcs.a005629_Supplemental_Files_1-5.pdf

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options.

Niemeyer CM et al.

British Journal of Haematology, 2008

Hyperactive Ras in developmental disorders and cancer.

Schubbert S et al.

Nature Reviews. Cancer, 2007

Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.

Chen Y et al.

Genes, Chromosomes & Cancer, 2006

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

Kratz CP et al.

Blood, 2005

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M et al.

Nature Genetics, 2003

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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."