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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASNS

Variant:p.R340C

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ASNS

NM_001673.5:p.R340C

hg38:chr7:97856702 G>A

Associated Papers

The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes.

Lee SJ et al.

Seizure, 2024

38043418 (PubMed )

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