Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.P185L
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GALT

NM_000155.4:p.P185L

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

Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

Singh R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR et al.

Human Mutation, 2007

Genetic approaches to biochemical questions: insights into the functional requirements of proline 185 in the active site of human galactose-1-phosphate uridylyltransferase.

Quimby BB et al.

Saas Bulletin, Biochemistry and Biotechnology, 1997

Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase.

Quimby BB et al.

The Journal of Biological Chemistry, 1996

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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."