Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.K304delFs
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LMAN1

NM_005570.4:p.K304delFs

Associated Papers

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Yakovleva E et al.

Seminars in Thrombosis and Hemostasis, 2025

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.

Suda K et al.

Cancer Science, 2020

32473611 (PubMed )
Supplement: CAS-111-3000-s008.xls › Sheet1

The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Liu Z et al.

Oncotarget, 2018

29937994 (PubMed )
Supplement: oncotarget-09-27412-s005.xlsx › Supplementary_Table_4

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.

Patel AJ et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].

Ueno H et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991

[Case report of congenital deficiency of factor V and factor VIII].

Vujaklija-Stipanović K et al.

Bilten Za Hematologiju I Transfuziju, 1979

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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."