Varaico: Literature-Extracted Genetic Variants

Gene:DEFB1
Variant:p.C67S
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DEFB1

NM_005218.4:p.C67S

Associated Papers

In-silico analysis of non-synonymous single nucleotide polymorphisms in human β-defensin type 1 gene reveals their impact on protein-ligand binding sites.

Fareed MM et al.

Computational Biology and Chemistry, 2022

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

Vankeerberghen A et al.

Genomics, 2005

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.

Taudien S et al.

Bmc Genomics, 2004

Human beta defensin 1 gene: six new variants.

Vatta S et al.

Human Mutation, 2000

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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."