Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.L57F
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F11

NM_000128.4:p.L57F

Associated Papers

Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.

Rosenberg N et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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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."