Varaico: Literature-Extracted Genetic Variants

Gene:HIBADH
Variant:p.N195fs
Back to variants list

HIBADH

NM_152740.4:p.N195fs

Associated Papers

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

Sasarman F et al.

Journal of Inherited Metabolic Disease, 2022

3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.

Meyer M et al.

Journal of Inherited Metabolic Disease, 2021

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."