Varaico: Literature-Extracted Genetic Variants

Gene:FYB1
Variant:p.W131*
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FYB1

NM_001465.6:p.W131*

Associated Papers

Recent advances in inherited platelet disorders.

Pluthero FG et al.

Current Opinion in Hematology, 2019

ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia.

Spindler M et al.

Blood, 2018

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.

Levin C et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

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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."