Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G529S
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ELN

NM_001278913.2:p.G529S

Associated Papers

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND et al.

Molecular Genetics & Genomic Medicine, 2018

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Delio M et al.

American Journal of Medical Genetics. Part A, 2013

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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."