Varaico: Literature-Extracted Genetic Variants

Gene:RTP1
Variant:p.M112V
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RTP1

NM_153708.3:p.M112V

Associated Papers

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

Lin Z et al.

Scientific Reports, 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."