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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NF1

Variant:p.G629_V630delFs

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NF1

NM_001042492.3:p.G629_V630delFs

hg38:chr17:31225133 CGG>C

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

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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."