Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.A350V
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DGAT1

NM_012079.6:p.A350V

Associated Papers

A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.

Zheng Y et al.

Lipids in Health and Disease, 2024

A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations.

Millman P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.

Li J et al.

Frontiers in Pediatrics, 2023

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