Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.Q317H
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GALT

NM_000155.4:p.Q317H

Associated Papers

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

McCorvie TJ et al.

Human Molecular Genetics, 2016

27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L et al.

Human Mutation, 1999

The molecular biology of galactosemia.

Elsas LJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."