Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.C152Y
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PSAT1

NM_058179.4:p.C152Y

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

37812589 (PubMed )
Supplement: pgen.1010972.s017.xlsx › Table_S3

Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Zhu Y et al.

Nature Communications, 2018

29500430 (PubMed )
Supplement: 41467_2018_3311_MOESM5_ESM.xlsx › SAAVs_and_orthogonal_evidence
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