Varaico: Literature-Extracted Genetic Variants

Gene:KLK1
Variant:p.R77H
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KLK1

NM_002257.4:p.R77H

Associated Papers

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Parsopoulou F et al.

Frontiers in Allergy, 2022

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N et al.

Genome Medicine, 2019

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf

Mining for single nucleotide variants (SNVs) at the kallikrein locus with predicted functional consequences.

Sukumar N et al.

Biological Chemistry, 2014

A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers.

Fujita T et al.

Journal of Human Genetics, 2013

Genetic polymorphisms in the human tissue kallikrein (KLK) locus and their implication in various malignant and non-malignant diseases.

Batra J et al.

Biological Chemistry, 2012

A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus.

Goard CA et al.

Molecular Oncology, 2007

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity.

Slim R et al.

Journal of the American Society of Nephrology : Jasn, 2002

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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."