Varaico: Literature-Extracted Genetic Variants

Gene:ASAH1
Variant:p.C143G
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ASAH1

NM_177924.5:p.C143G

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Farber disease in a patient from China.

Bao X et al.

American Journal of Medical Genetics. Part A, 2020

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