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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADSS1

Variant:p.G308E

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ADSS1

NM_152328.5:p.G308E

hg38:chr14:104741977 G>A

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )

Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

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