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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACSL5

Variant:p.G583D

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ACSL5

NM_016234.4:p.G583D

hg38:chr10:112422428 G>A

Associated Papers

Novel homozygous variant in ACSL5 gene causing Congenital Diarrhea and Enteropathy (CODE) with sustained therapeutic success: a case report.

Vafadar M et al.

Bmc Pediatrics, 2026

41572200 (PubMed )

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