Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.D197G
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GALT

NM_000155.4:p.D197G

Associated Papers

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

Daas S et al.

Journal of Inherited Metabolic Disease, 2023

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

Welling L et al.

Molecular Genetics and Metabolism, 2017

Modifiers of ovarian function in girls and women with classic galactosemia.

Spencer JB et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

23690308 (PubMed )
Supplement: 1.jc-13-1374_fig1_tab2.pdf
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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."