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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENG

Variant:p.G52R

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ENG

NM_001114753.3:p.G52R

hg38:chr9:127843159 C>G

Associated Papers

Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.

Lee S et al.

Journal of Clinical Neurology (seoul, Korea), 2024

39227335 (PubMed )

Coronary telangiectasia associated with hypertrophic cardiomyopathy.

Frustaci A et al.

European Journal of Heart Failure, 2012

22869457 (PubMed )

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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."