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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL5A1

Variant:p.I102N

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COL5A1

NM_000093.5:p.I102N

hg38:chr9:134699936 T>A

Associated Papers

Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?

Butler MG

World Journal of Cardiology, 2020

32879701 (PubMed )

Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father.

Sen P et al.

Journal of Pediatric Genetics, 2019

31061749 (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."