Varaico: Literature-Extracted Genetic Variants

Gene:ASAH2
Variant:p.Q83*
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ASAH2

NM_019893.4:p.Q83*

Associated Papers

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
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