Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.A1184T
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NPHP3

NM_153240.5:p.A1184T

Associated Papers

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.

Aypek H et al.

Renal Failure, 2025

41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
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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."