Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.Q369*
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FGB

NM_005141.5:p.Q369*

Associated Papers

The β-chain mutation p.Trp433Stop impairs fibrinogen secretion: A novel nonsense mutation associated with hypofibrinogenemia.

Yan J et al.

International Journal of Laboratory Hematology, 2021

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.

Simurda T et al.

International Journal of Molecular Sciences, 2017

A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.

Marchi R et al.

Blood Cells, Molecules & Diseases, 2013

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