Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.G217Splc
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ELP1

NM_003640.5:p.G217Splc

Associated Papers

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.

Ohe K et al.

Rna (new York, N.y.), 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."