Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V290Splc
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PSAT1

NM_058179.4:p.V290Splc

Associated Papers

Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.

El-Dessouky SH et al.

Prenatal Diagnosis, 2025

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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."