Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.D294H
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SERPINA1

NM_000295.5:p.D294H

Associated Papers

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography.

Cheng WY et al.

Frontiers in Genetics, 2022

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Senol-Cosar O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."