Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P678T
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NF1

NM_001042492.3:p.P678T

Associated Papers

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.

Chang M et al.

Acta Neuropathologica Communications, 2024

39472976 (PubMed )
Supplement: 40478_2024_1875_MOESM5_ESM.xlsx › Supplementary_Table_1

Clinical characteristics and molecular aspects of low-grade serous ovarian and peritoneal cancer: a multicenter, observational, retrospective analysis of MITO Group (MITO 22).

Musacchio L et al.

British Journal of Cancer, 2022

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."