Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.E551Splc
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AFP

NM_001134.3:p.E551Splc

Associated Papers

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.

Dweikat I et al.

Metabolism Open, 2021

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Chinsky JM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A et al.

Jimd Reports, 2011

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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."