Varaico: Literature-Extracted Genetic Variants

Gene:KNG1
Variant:p.K330E
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KNG1

NM_001102416.3:p.K330E

Associated Papers

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

Hereditary angio-oedema with normal C1-INH, developing recurrent acute abdomen after taking low-dose oestrogen-progestin: A case report.

Nakayama T et al.

Modern Rheumatology Case Reports, 2023

[Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level].

Emelyanov AV et al.

Terapevticheskii Arkhiv, 2020

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.

Bork K et al.

Orphanet Journal of Rare Diseases, 2020

[Biochemical diagnosis of hereditary hyperlipoproteinemias].

Tvorogova MG et al.

Terapevticheskii Arkhiv, 1998

[Difficulties in the diagnosis of hereditary familial amyloidosis].

Anokhin IM et al.

Terapevticheskii Arkhiv, 1995

[A case of hereditary angioneurotic edema provoked by functional insufficiency of C1-inactivator].

Didkovskiĭ NA et al.

Terapevticheskii Arkhiv, 1989

[Clinical aspects, diagnosis and treatment of hereditary hemolytic anemia caused by carrier state of unstable hemoglobin].

Idel'son LI et al.

Terapevticheskii Arkhiv, 1976

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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."