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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL3A1

Variant:p.R449H

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COL3A1

NM_000090.4:p.R449H

hg38:chr2:188994593 G>A

Associated Papers

[Visceral perforations in a child with Ehlers-Danlos syndrome type IV].

Nagy C et al.

Orvosi Hetilap, 2025

39786392 (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."