Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1
Variant:p.K395_P396Splc
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EHBP1

NM_001142616.3:p.K395_P396Splc

Associated Papers

The Relationship of the Pathogenic Variant rs721048 in the Intron of the EHBP1 Gene with the Development of Prostate Cancer and Colorectal Cancer in the Kazakh Population.

Romanova M et al.

Genes, 2025

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected.

Dharmarajan A et al.

Breast Disease, 2023

The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.

Crumbaker M et al.

Cancers, 2020

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Zhang C et al.

Genome Biology, 2019

31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1

Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Lin PC et al.

Scientific Reports, 2019

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

Ramírez-Calvo M et al.

Hereditary Cancer in Clinical Practice, 2019

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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."