Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G544R
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COL4A1

NM_001845.6:p.G544R

Associated Papers

A Systematic Review of Extreme Phenotype Strategies to Search for Rare Variants in Genetic Studies of Complex Disorders.

Amanat S et al.

Genes, 2020

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

Aubart M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."