Varaico: Literature-Extracted Genetic Variants

Gene:BAAT
Variant:p.R139*
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BAAT

NM_001701.4:p.R139*

Associated Papers

Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia.

Glembotsky AC et al.

Haematologica, 2019

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

Hadžić N et al.

World Journal of Gastroenterology, 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."