Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.P201L
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GALE

NM_001008216.2:p.P201L

Associated Papers

Galactose epimerase deficiency: lessons from the GalNet registry.

Derks B et al.

Orphanet Journal of Rare Diseases, 2022

36056436 (PubMed )
Supplement: 13023_2022_2494_MOESM1_ESM.xlsx › Classified_patients

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Kumar SU et al.

Cell Biochemistry and Biophysics, 2021

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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."