Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L312F
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HNF1A

NM_000545.8:p.L312F

Associated Papers

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu LR et al.

Current Medical Science, 2020

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.

Cheng DT et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Betge J et al.

Plos One, 2015

26010451 (PubMed )
Supplement: pone.0127146.s011.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."