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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.D2146N

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FBN1

NM_000138.5:p.D2146N

hg38:chr15:48437021 C>T

Associated Papers

Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.

Zhao Q et al.

Forensic Science International. Genetics, 2024

38670007 (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."