Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.R280*
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DGAT1

NM_012079.6:p.R280*

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

Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.

Shi C et al.

Balkan Journal of Medical Genetics : Bjmg, 2024

DGAT1 mutation in two sisters with failure to thrive: a case report.

Valentini MA et al.

Archivos Argentinos De Pediatria, 2023

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."