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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFASC

Variant:p.P939delFs

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NFASC

NM_001160332.2:p.P939delFs

hg38:chr1:204987452 GC>G

Associated Papers

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S et al.

Brain : a Journal of Neurology, 2019

31501903 (PubMed )

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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."