Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
You are viewing an old version of this page that was saved on August 24, 2015 at 10:01pm by Madeleine Ball.
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML.
Analysis of Iranian patients allowed the identification of the first truncating
mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
Haematologica. 2002 Aug;87(8):855-9. PubMed PMID: 12161363.