Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.V698M
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NEFH

NM_021076.4:p.V698M

Associated Papers

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.

Nguyen NL et al.

Diagnostics (basel, Switzerland), 2020

32987775 (PubMed )
Supplement: diagnostics-10-00741-s001.zip › diagnostics-900787-supp-xml-2 › Supplementary_Table_S2.xlsx › Sheet1
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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."