Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1849Splc
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NF1

NM_000267.3:p.R1849Splc

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

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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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."