Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R997G
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NF1

NM_001042492.3:p.R997G

Associated Papers

Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.

Trimeche O et al.

Journal of Medical Genetics, 2025

39643432 (PubMed )
Supplement: jmg-62-2-s001.pdf

MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.

Cai X et al.

Bmc Cancer, 2024

39528978 (PubMed )
Supplement: 12885_2024_13163_MOESM1_ESM.xlsx › SNVs

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.

Terzi YK et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 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."