Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C622fs
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NF1

NM_001042492.3:p.C622fs

Associated Papers

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Assunto A et al.

Orphanet Journal of Rare Diseases, 2019

31730495 (PubMed )
Supplement: 13023_2019_1223_MOESM1_ESM.doc

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

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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."