Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.D231N
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PSAP

NM_002778.4:p.D231N

Associated Papers

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R et al.

Molecular Genetics and Metabolism, 2024

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.

Greczan M et al.

Frontiers in Genetics, 2022

36583024 (PubMed )
Supplement: Table1.pdf

Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

Grünert SC et al.

Orphanet Journal of Rare Diseases, 2019

Active site mapping of MraY, a member of the polyprenyl-phosphate N-acetylhexosamine 1-phosphate transferase superfamily, catalyzing the first membrane step of peptidoglycan biosynthesis.

Al-Dabbagh B et al.

Biochemistry, 2008

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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."