Varaico: Literature-Extracted Genetic Variants

Gene:HGF
Variant:p.R630*
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HGF

NM_000601.6:p.R630*

Associated Papers

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Alpaslan M et al.

Human Molecular Genetics, 2024

A HGF Mutation in the Familial Case of Primary Lymphedema: A Report.

Koksharova G et al.

International Journal of Molecular Sciences, 2024

Genetic Study of HGF-MET Signaling Pathway in Primary Lymphedema Patients: Supporting Evidence for Loss of Function Variants in HGF.

Kozacikova R et al.

Lymphology, 2024

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited

Clinical and genetic study of 46 Italian patients with primary lymphedema.

Michelini S et al.

Lymphology, 2012

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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."