Varaico: Literature-Extracted Genetic Variants

Gene:PCK2
Variant:p.R193*
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PCK2

NM_004563.4:p.R193*

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.

Sondheimer N et al.

Hgg Advances, 2023

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4A
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