Varaico: Literature-Extracted Genetic Variants

Gene:HGF
Variant:p.R533*
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HGF

NM_000601.6:p.R533*

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

Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Li R et al.

Nature Communications, 2021

34145257 (PubMed )
Supplement: 41467_2021_24043_MOESM5_ESM.xlsx › Sheet1

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S6_German_patients_mutations

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D et al.

Scientific Reports, 2017

29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM1_ESM.pdf
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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."