Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.S189Splc
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ASS1

NM_054012.4:p.S189Splc

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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