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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A3

Variant:p.S3064F

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COL6A3

NM_004369.4:p.S3064F

hg38:chr2:237334664 G>A

Associated Papers

The role of mutations in COL6A3 in isolated dystonia.

Lohmann K et al.

Journal of Neurology, 2016

26872670 (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."