Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.N318T
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NEB

NM_001164508.2:p.N318T

Associated Papers

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB et al.

Science Translational Medicine, 2017

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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."