Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V630delFs
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NF1

NM_001042492.3:p.V630delFs

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Palma Milla C et al.

Annals of Human Genetics, 2018

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L et al.

European Journal of Human Genetics : Ejhg, 2012

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O et al.

Human Mutation, 2006

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M et al.

Human Mutation, 2004

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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."