Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.G609Splc
Back to variants list

PC

NM_001040716.2:p.G609Splc

Associated Papers

A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period.

Sharif S et al.

Cureus, 2022

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."