Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL1
Variant:p.S2C
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ELAVL1

NM_001419.3:p.S2C

Associated Papers

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

Mendonça RH et al.

Neurology. Genetics, 2020

Reversible inactivation of the CG specific SssI DNA (cytosine-C5)-methyltransferase with a photocleavable protecting group.

Rathert P et al.

Chembiochem : a European Journal of Chemical Biology, 2007

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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."