Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.S420R
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DGAT1

NM_012079.6:p.S420R

Associated Papers

Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency.

Yorgun Altunbas M et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.

Zeng J et al.

Biomedicines, 2025

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

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

van Rijn JM et al.

Gastroenterology, 2018

Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets.

Ratchford TL et al.

Journal of Pediatric Gastroenterology and Nutrition, 2018

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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."