Varaico: Literature-Extracted Genetic Variants

Gene:AMBP
Variant:p.P209L
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AMBP

NM_001633.4:p.P209L

Associated Papers

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.

Chen Q et al.

Renal Failure, 2025

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Leonard RJ et al.

Frontiers in Cardiovascular Medicine, 2020

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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."