Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.T1667P
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PKD1

NM_001009944.3:p.T1667P

Associated Papers

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.

Sun Q et al.

Npj Genomic Medicine, 2025

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

Rossetti S et al.

Lancet (london, England), 2003

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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."