Varaico: Literature-Extracted Genetic Variants

Gene:PCK1
Variant:p.R175Q
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PCK1

NM_002591.4:p.R175Q

Associated Papers

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

Kava H et al.

Frontiers in Pediatrics, 2025

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Blomquist MR et al.

Neuro-oncology Advances, 0

32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_9.xlsx › SomaticMutations
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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."