Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PC

Variant:p.T289_R290del0

Back to variants list

PC

NM_001040716.2:p.T289_R290del0

hg38:chr11:66870334 GCCGAGT>G

Associated Papers

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Bernhardt I et al.

Jimd Reports, 2024

38186850 (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."