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Article

The evolution of a Web resource: The Galactosemia Proteins Database 2.0.

Human mutation - 1 Jan 2018

d'Acierno Antonio, Scafuri Bernardina, Facchiano Angelo, Marabotti Anna

Abstract excerpt

Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia." It represents an evolution of two available online resources we...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28961353
DOI: 10.1002/humu.23346

Genes

GALE
GALK1
GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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