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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL3A1

Variant:p.E1414K

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COL3A1

NM_000090.4:p.E1414K

hg38:chr2:189010876 G>A

Associated Papers

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Landis BJ et al.

Journal of Cardiovascular Translational Research, 2017

28550590 (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."