Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R451C
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PC

NM_001040716.2:p.R451C

Associated Papers

An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum.

Lai ESK et al.

Frontiers in Neural Circuits, 2021

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Coci EG et al.

Human Mutation, 2019

c-di-AMP modulates Listeria monocytogenes central metabolism to regulate growth, antibiotic resistance and osmoregulation.

Whiteley AT et al.

Molecular Microbiology, 2017

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S et al.

Human Mutation, 2009

Structure, mechanism and regulation of pyruvate carboxylase.

Jitrapakdee S et al.

The Biochemical Journal, 2008

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Wang D et al.

Molecular Genetics and Metabolism, 0

Genetic Animal Models for Autism Spectrum Disorder.

Schroeder JC et al.

Current Topics in Behavioral Neurosciences, 0

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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."