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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL5A1

Variant:p.P257S

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COL5A1

NM_000093.5:p.P257S

hg38:chr9:134727380 C>T

Associated Papers

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome.

Bauer A et al.

Genes, 2019

31546637 (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."