Varaico: Literature-Extracted Genetic Variants

Gene:GINS4
Variant:p.V171L
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GINS4

NM_032336.3:p.V171L

Associated Papers

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.

Seo S et al.

Cell Reports, 2025

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Marti S et al.

Hemasphere, 2025

40510848 (PubMed )
Supplement: HEM3-9-e70150-s002.xlsx › S1

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.

Seo S et al.

Biorxiv : the Preprint Server for Biology, 2025

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.

Conte MI et al.

Jci Insight, 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_S11-final_16052022.xlsx › Table_S11B

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
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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."