Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.Q188_V189Splc
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GALT

NM_000155.4:p.Q188_V189Splc

Associated Papers

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Westemeyer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Demirbas D et al.

Pediatric Clinics of North America, 2018

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."