Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q2267Q
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NF1

NM_000267.3:p.Q2267Q

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

Hernández-Imaz E et al.

Clinical Genetics, 2013

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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."