Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.R318insFs
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DGAT1

NM_012079.6:p.R318insFs

Associated Papers

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

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

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM et al.

Gastroenterology, 2018

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