Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.P248_G249Splc
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COL3A1

NM_000090.4:p.P248_G249Splc

Associated Papers

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Wooderchak-Donahue WL et al.

Bmc Medical Genomics, 2012

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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."