Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR1H2

Variant:p.G34S

Back to variants list

NR1H2

NM_007121.7:p.G34S

hg38:chr19:50377789 G>A

Associated Papers

Novel mutations cause biotinidase deficiency in Turkish children.

Pomponio RJ et al.

Journal of Inherited Metabolic Disease, 2000

10801053 (PubMed )

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."