Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L695R
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NF1

NM_001042492.3:p.L695R

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Upadhyaya M et al.

Neurogenetics, 2009

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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."