Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_
Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis.
Wei Z et al.
The Journal of Dermatology, 2025
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Schenk B et al.
The Journal of Clinical Investigation, 2001
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