Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.V2251del1
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PKD1

NM_001009944.3:p.V2251del1

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

[Application of single-sperm sequencing technology in preimplantation genetic testing for men with autosomal dominant polycystic kidney disease].

Deng TQ et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2022

Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China.

Li W et al.

Andrologia, 2022

Pilot Study of the Occurrence of Somatic Mutations in Ciliary Signalling Pathways as a Contribution Factor to Autosomal Dominant Polycystic Kidney Development.

Skalická K et al.

Folia Biologica, 2017

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s5.xls › Sheet1
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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."