Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.G1166S
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PKD1

NM_001009944.3:p.G1166S

Associated Papers

Genetic analysis and counseling of ADPKD caused by novel heterozygous mutations of PKD1 in two Chinese families: Case report.

Wang Y et al.

Heliyon, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Altered trafficking and stability of polycystins underlie polycystic kidney disease.

Cai Y et al.

The Journal of Clinical Investigation, 2014

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.

Phakdeekitcharoen B et al.

Journal of the American Society of Nephrology : Jasn, 2001

Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

Phakdeekitcharoen B et al.

Kidney International, 2000

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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."