Varaico: Literature-Extracted Genetic Variants

Gene:DEFB104A
Variant:p.R38Q
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DEFB104A

NM_080389.3:p.R38Q

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc5.xlsx › T5

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.

Nichols AC et al.

Case Reports in Oncological Medicine, 2013

23653877 (PubMed )
Supplement: 270362.f1.xls › SNV

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.

Vankeerberghen A et al.

Genomics, 2005

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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."