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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.K67_M70delFs

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GLA

NM_000169.3:p.K67_M70delFs

hg38:chrX:101403970 CATGAAGAGCT>C

Associated Papers

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

34626083 (PubMed )

Supplement: JTH-20-69-s001.docx

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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."