Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E178*
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NF1

NM_001042492.3:p.E178*

Associated Papers

Synchronous endometrial and ovarian cancers originating from distinct clonal lineages in Lynch syndrome: A case report and review of the literature.

Ohta M et al.

The Journal of Obstetrics and Gynaecology Research, 2025

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › Hot.spot.panel.SNP_all_variants

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.

Guerrini-Rousseau L et al.

Journal of Medical Genetics, 2024

Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report.

Kitazono I et al.

International Journal of Surgical Pathology, 2022

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Sorrentino U et al.

Cancers, 2021

NF1 Mutations Are Common in Desmoplastic Melanoma.

Wiesner T et al.

The American Journal of Surgical Pathology, 2015

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM et al.

Pediatric Neurology, 2013

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Jeong SY et al.

Journal of Korean Medical Science, 2006

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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."