Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.Y375Y
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FGB

NM_005141.5:p.Y375Y

Associated Papers

Congenital hypofibrinogenemia with bleeding risk: mutations in the FGA, FGB, and FGG genes.

Wu Y et al.

Laboratory Medicine, 2026

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Novel FGB mutation Bβ240Cys→Arg confirms importance of the Bβ211-240 disulphide for plasma expression of fibrinogen.

Brennan SO et al.

Thrombosis Research, 2016

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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."