Varaico: Literature-Extracted Genetic Variants

Gene:HIF1A
Variant:p.V74L
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HIF1A

NM_001243084.2:p.V74L

Associated Papers

Biomimetic Digital Twins and Multiomics: Applications to Rheumatoid Arthritis and the Potential Reclassification of Variants of Unknown Clinical Significance.

Kearns WG et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Poll SR et al.

Plos Genetics, 2022

Association of HIF1A and Parkinson's disease in a Han Chinese population demonstrated by molecular inversion probe analysis.

Qin L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019

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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."