Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.K441*
Back to variants list

CBS

NM_000071.3:p.K441*

Associated Papers

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Weber Hoss GR et al.

Molecular Genetics & Genomic Medicine, 2020

The Spectrum of Mutations of Homocystinuria in the MENA Region.

Al-Sadeq DW et al.

Genes, 2020

Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

Lu YH et al.

Molecular Genetics and Metabolism, 2012

CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

Kwok JS et al.

Pathology, 2011

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

Katsushima F et al.

Molecular Genetics and Metabolism, 2006

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."