Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E6K
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VHL

NM_000551.4:p.E6K

Associated Papers

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

De Jonghe J et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Neutral-Coating Capillary Electrophoresis Coupled with High-Resolution Mass Spectrometry for Top-Down Identification of Hemoglobin Variants.

Luo RY et al.

Clinical Chemistry, 2023

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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."