Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.D46Splc
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MTM1

NM_000252.3:p.D46Splc

Associated Papers

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE et al.

Npj Genomic Medicine, 2018

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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."