Varaico: Literature-Extracted Genetic Variants

Gene:DGAT1
Variant:p.W401*
Back to variants list

DGAT1

NM_012079.6:p.W401*

Associated Papers

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

Zeng J et al.

Biomedicines, 2025

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

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

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

van Rijn JM et al.

Gastroenterology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."