Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.P100T
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BLOC1S3

NM_212550.5:p.P100T

Associated Papers

A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family.

Fager Ferrari M et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020

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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."