Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.N388_K390del0
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APOL1

NM_003661.4:p.N388_K390del0

Associated Papers

Genetic screening in kidney transplant candidates.

Le Moal P et al.

Clinical Kidney Journal, 2026

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States.

da Silva Francisco R et al.

Kidney International Reports, 2024

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

A pragmatic approach to selective genetic testing in kidney transplant candidates.

Nissaisorakarn P et al.

Frontiers in Transplantation, 2023

Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.

Tan KT et al.

Genome Medicine, 2021

34261517 (PubMed )
Supplement: 13073_2021_929_MOESM1_ESM.xlsx › Table_S4_-_Germline_variants

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Senol-Cosar O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Fetal-Not Maternal-APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancestry.

Reidy KJ et al.

American Journal of Human Genetics, 2018

APOL1 renal risk variants have contrasting resistance and susceptibility associations with African trypanosomiasis.

Cooper A et al.

Elife, 2017

Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment.

Zhang J et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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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."