Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G672*
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NF1

NM_001042492.3:p.G672*

Associated Papers

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

Winzeler B et al.

Clinical Endocrinology, 2022

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Assunto A et al.

Orphanet Journal of Rare Diseases, 2019

31730495 (PubMed )
Supplement: 13023_2019_1223_MOESM1_ESM.doc
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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."