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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGAT1

Variant:p.L428_W429del2

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DGAT1

NM_012079.6:p.L428_W429del2

hg38:chr8:144316876 CCCAGAG>C

Associated Papers

New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.

Eldredge JA et al.

The Journal of Pediatrics, 2021

33607125 (PubMed )

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