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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELP3

Variant:p.Y337*

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ELP3

NM_018091.6:p.Y337*

hg38:chr8:28137802 T>A

Associated Papers

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Cooper-Knock J et al.

Frontiers in Molecular Neuroscience, 2017

29170628 (PubMed )

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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."