Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.H321Y
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GALT

NM_000155.4:p.H321Y

Associated Papers

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1

Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.

Yuzyuk T et al.

The Journal of Applied Laboratory Medicine, 2018

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ et al.

Human Molecular Genetics, 2016

Verbal dyspraxia and galactosemia.

Webb AL et al.

Pediatric Research, 2003

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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."