Varaico: Literature-Extracted Genetic Variants

Gene:BAAT
Variant:p.G386R
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BAAT

NM_001701.4:p.G386R

Associated Papers

Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.

Nguyen DQ et al.

Medicine, 2024

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

Setchell KD et al.

Gastroenterology, 2013

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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."