Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V292_I293del2
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PSAP

NM_002778.4:p.V292_I293del2

Associated Papers

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

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E et al.

Brain : a Journal of Neurology, 2010

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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."