Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A5
Variant:p.H338Y
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SLC27A5

NM_012254.3:p.H338Y

Associated Papers

Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.

Lülecioğlu AA et al.

Journal of Cellular and Molecular Medicine, 2024

Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.

Setchell KD et al.

Gastroenterology, 2013

The bile salt export pump (BSEP) in health and disease.

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.

Hadžić N et al.

World Journal of Gastroenterology, 2012

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Chong CP et al.

Journal of Inherited Metabolic Disease, 2012

Disorders of bile acid synthesis.

Clayton PT

Journal of Inherited Metabolic Disease, 2011

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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."