Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A1422T
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PKD1

NM_001009944.3:p.A1422T

Associated Papers

Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review.

Ndongo M et al.

World Journal of Nephrology, 2024

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Alzahrani OR et al.

Medicina (kaunas, Lithuania), 2022

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Tuncay IO et al.

Npj Genomic Medicine, 2022

35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Walczak-Sztulpa J et al.

Frontiers in Genetics, 2022

35873489 (PubMed )
Supplement: DataSheet1.docx

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."