Varaico: Literature-Extracted Genetic Variants

Gene:PHC1
Variant:p.Q389*
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PHC1

NM_004426.3:p.Q389*

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Qi YA et al.

Molecular & Cellular Proteomics : Mcp, 2021

34391887 (PubMed )
Supplement: mmc3.xlsx › RA007.all.somatic

Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target.

Sapienza MR et al.

Haematologica, 2019

30381297 (PubMed )
Supplement: 2018.202093.SAPIENZA_SUPPL.pdf
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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."