Varaico: Literature-Extracted Genetic Variants

Gene:PHKG1
Variant:p.V48M
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PHKG1

NM_006213.5:p.V48M

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP

Correlation of homologous recombination deficiency induced mutational signatures with sensitivity to PARP inhibitors and cytotoxic agents.

Póti Á et al.

Genome Biology, 2019

31727117 (PubMed )
Supplement: 13059_2019_1867_MOESM1_ESM.xlsx › Table_S11
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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."