Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.C80R
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PSAT1

NM_058179.4:p.C80R

Associated Papers

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

Xie MJ et al.

Plos Genetics, 2023

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

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