Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G2253delFs
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NF1

NM_001042492.3:p.G2253delFs

Associated Papers

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Ruggieri M et al.

Clinical Genetics, 2015

NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

Kluwe L et al.

Journal of Medical Genetics, 2003

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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."