Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.N1186K
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ELP1

NM_003640.5:p.N1186K

Associated Papers

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

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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."