Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V149M
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PSAT1

NM_058179.4:p.V149M

Associated Papers

Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.

Xie MJ et al.

Biorxiv : the Preprint Server for Biology, 2023

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Sirr A et al.

Journal of Inherited Metabolic Disease, 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."