Varaico: Literature-Extracted Genetic Variants

Gene:MAPKBP1
Variant:p.Q757delFs
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MAPKBP1

NM_014994.3:p.Q757delFs

Associated Papers

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.

Findeisen C et al.

Kidney International Reports, 2025

40814602 (PubMed )
Supplement: mmc1.pdf

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

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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."