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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACSF3

Variant:p.R354Q

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ACSF3

NM_001243279.3:p.R354Q

hg38:chr16:89114422 G>A

Associated Papers

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).

Gragnaniello V et al.

Jimd Reports, 2025

41030468 (PubMed )

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