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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:E4F1

Variant:p.E123G

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E4F1

NM_004424.5:p.E123G

hg38:chr16:2229628 A>G

Associated Papers

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Tariq H et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30198223 (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."