Literature summary for 3.4.21.27 extracted from

Kwon, M.J.; Kim, H.J.; Bang, S.H.; Kim, S.H.
Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene (2008), Blood Coagul. Fibrinolysis, 19, 679-683.

Protein Variants

Protein Variants	Comment	Organism
additional information	two different mutations, c.1546 G>A (Val498Met) and c.1560dupG (Tyr503ValfsX32) in the F11 gene	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P03951	korean woman with hereditary factor XI deficiency	-

Synonyms	Comment	Organism
factor XI	-	Homo sapiens
FXI	-	Homo sapiens

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Release 2023.1 (January 2023)