Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.P144fs
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PSAT1

NM_058179.4:p.P144fs

Associated Papers

Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.

Li J et al.

Molecular Genetics & Genomic Medicine, 2024

Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly.

Shapira Zaltsberg G et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2020

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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."